WBBSE Solutions For Class 10 Life Science And Environment Chapter 3 Some Genetic Diseases

Chapter 3 Some Genetic Diseases Summary

• There are some genetic diseases like-Thalassemia, Haemophilia, and Colour blindness seen in the human population.
• Thalassemia is an autosomal recessive disease. It is mainly of two types-a and B thalassemia. On the basis of severity, it is of two types-Highly severe thalassemia major and relatively less severe thalassemia minor.
• In thalassemia, globin protein synthesis is disturbed resulting in Anaemia. Due to the high accumulation of iron, deformities in bone are generated.
• Haemophilia is an X-linked disease in which due to the absence of blood clotting factor, blood clotting does not take place.
  Haemophilia on the basis of severity is of three types-

1. Light haemophilia [Blood clotting factor 5-50%]
2. Moderate haemophilia [Blood clotting factor 1-5%]
3. Severe haemophilia [Blood Clotting factor <1%]

• On the basis of the type of blood clotting factor that is absent, haemophilia is of 3 types- Haemophilia A, haemophilia B or Christmas disease and haemophilia C.
• Colour blindness is another X-linked recessive disease where the affected person can not identify blue, green or red colour.
• Cololur blindness is of three types-Protanopia [a person can not recognise red colour], Deuteranopia [a person can not recognise green colour], and Tritanopia [a person can not recognise Blue colour]. The inheritence pattern of haemophilia, thalassemia and colour blindness can be calculated by a genetic cross.
• Genetic counselling is important to prevent genetic disease. Through genetic counselling, the chance percentage of a disease can be calculated.

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Chapter 3 Some Genetic Diseases  Long Answer Type Questions

Question 1. What is thalassemia? Briefly describe different types of thalassemia.

Answer:

Thalassemia:

The genetic blood disorder, in which any of the globin peptide chains of haemoglobin is not synthesised at all or produced in much less quantity than normal, is known as thalassemia.

In this disease, the quantity of haemoglobin is reduced, and RBC becomes smaller and abnormally shaped.

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Types of thalassemia:

Two types of thalassemia are seen in humans. These are-

1. α-thalassemia and
2. β-thalassemia.

1. α-thalassemia:

In this type of thalassemia, synthesis of the α-globin peptide chain of haemoglobin is either reduced or stopped. In the 16th homologous chromosome pair, there are two genes (HBA1 and HBA2) and their two sets of alleles to control a-globin peptide synthesis.

If a mutation occurs in one set of alleles, a-thalassemia. minor occurs. When both sets of alleles are mutated, the most severe, a-thalassemia major occurs.

2. β-thalassemia:

If the synthesis of the β-globin peptide chain of haemoglobin is reduced or stopped in the body, a person suffers from β-thalassemia. A pair of alleles of the HBB gene is located on the 11th homologous pair of chromosomes of a human cell responsible for β-globin peptide synthesis.

In case of mutation in one of the alleles, β-thalassemia minor occurs. If both the alleles undergo mutation, β-thalassemia major occurs. American physician Thomas Benton Cooley discovered β-thalassemia, hence this disease is also known as Cooley’s anaemia.

Question 2. Mention the symptoms of thalassemia.
Briefly describe the cause of thalassemia.

Answer:

Symptoms of thalassemia:

1. Severe anaemia due to reduced synthesis of haemoglobin.
2. Rapid breakdown of RBC leads to the release and accumulation of iron in different organs, resulting in their dysfunction.
3. Excessive proliferation of bone marrow leads to deformity of bones, especially of the face and skull.
4. Enlargement of the liver and spleen occurs. It leads to jaundice, stunted growth and a weakened immune system.

Cause of thalassemia:

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Thalassemia occurs due to mutation in the globin-synthesising genes. The haemoglobin molecule is composed of two a and β-globin peptide chains. The genes for synthesis of a and β-globin are located on the 16th and 11th autosomes of a human cell.

The mutant a and β-globin genes hinder the synthesis of respective globin chains, resulting into abnormal haemoglobin that leads to thalassemia.

Question 3. What is haemophilia? Briefly describe the different types of haemophilia.

Answer:

Haemophilia:

Haemophilia is a genetic disorder, caused by an X chromosome-linked mutant gene, in which bleeding time from any wound is so prolonged that a person suffers from a life-threatening level of blood loss.

Mutation in a single gene on X-chromosome causes this disease in males, while a mutation in two genes on both the X-chromosomes will cause haemophilia in females.

Types of haemophilia

In humans, two types of haemophilia are seen, these are-

1. Haemophilia A or classical haemophilia:

In case of deficiency of a blood coagulating factor, Factor VIII or anti-haemophilic factor (AHF) in plasma, this serious type of haemophilia occurs. In our country, 80% of haemophilic persons suffer from this particular disease.

2. Haemophilia B or Christmas disease:

Deficiency of a blood coagulating factor called factor IX or Christmas factor or plasma thromboplastin component (PTC) in plasma, causes this type of haemophilia. This is not as deadly as haemophilia A.

In India, 20% of haemophilic persons suffer from haemophilia B. This disease was first detected in a person named Stephen Christmas. Therefore, this is also known as Christmas disease.

Question 4. Mention the symptoms and causes of haemophilia.

Answer:

Symptoms of haemophilia:

Based on intensity, haemophilia may be classified into three different types-mild, moderate and severe haemophilia, which have different symptoms, as mentioned below.

1. Symptoms of mild haemophilia:

The symptoms of mild haemophilia remain suppressed for a long time. With ageing, the problem of blood clotting appears slowly. The problem of bleeding becomes prominent during surgical operations or major injury.

2. Symptoms of moderate haemophilia:

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Symptoms of moderate haemophilia appear since birth. The patients suffer from prolonged bleeding. Internal haemorrhage occurs in bone joints. Swelling of joints and joint stiffness are also seen.

3. Symptoms of severe haemophilia:

Patients suffering from severe haemophilia often bleed for no apparent reason, known as spontaneous bleeding. In the case of severe haemophilia, profuse internal haemorrhage occurs in bone joints resulting in to serious joint deformity (hemarthrosis).

Besides, haemorrhage also occurs from nasal mucosa, within the skull, which may result in to paralysis, even death of the patient.

Causes of haemophilia:

The causes of haemophilia A and haemophilia B are mentioned below.

1. Cause of Haemophilia A or classical haemophilia:

Deficiency of blood coagulating factor, called factor VIII or anti-haemophilic factor (AHF) in blood.

2. Cause of Haemophilia B or Christmas disease:

Deficiency of blood coagulating factor, called plasma thromboplastin component (PTC) or factor IX in blood.

Question 5. Mention the types and causes of colour blindness.

Answer:

Types of colour blindness:

Different types of colour blindness are seen in the human population.

1. Protanopia or red colour blindness:

In this disease, an individual cannot detect red colour. They see red as black or deep brown, orange-yellow-green as different shades of yellow and violet as blue.

2. Deuteranopia or green colour blindness:

In the case of deuteranopia, one cannot detect green colour. Deutaronopes cannot detect red, orange and yellow properly but their colour vision is better than protanopes.

3. Tritanopia or blue colour blindness:

In blue colour blindness, a person cannot detect blue colour.

Cause of colour blindness:

Colour detection in human eye depends upon the cone cells of the retina. There are three types of cone cells in human retina, which are sensitive to red, green and blue colours.

These cells contain separate photopsin pigments to sense the wavelengths of red, green and blue lights. Synthesis of red and green photopsin pigments are controlled by X-linked genes, whereas, the blue photopsin synthesis is controlled by an autosomal gene. In case of mutation in these genes, respective colour blindness occurs.

Question 6. What is meant by genetic counselling? Discuss the role of genetic counselling in combating thalassemia.

Answer:

Genetic counselling:

By analysing the history of genetic diseases of family members and performing some genetic tests, the probability of any genetic disorder being transmitted to the future generations can be predicted.

Based on these investigations, a pre-marriage suggestion is provided to a couple by the genetic counsellor so that they can have healthy offspring. This is known as genetic counselling.

 

 

Thalassemia and genetic counselling:

Thalassemia is an inherited genetic disease. Therefore, genetic counselling is needed to combat this disease. In this disease, haemoglobin is synthesised in insufficient amounts and thus oxygen transportation is hampered.

As a result, huge quantities of iron accumulate in the heart, liver and endocrine glands of the body. Therefore, genetic screening of haemoglobin synthesising genes must be done before marriage in families with histories of thalassemia.

Using this data, the probability of children having thalassemia can be reduced. With the help of genetic counselling, the probable percentages of offspring having thalassemia major or minor from thalassemia minor parents can be determined.

Thus genetic counselling plays very important role in combating thalassemia.

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Question 7. How is genetic counselling performed? Mention the importance of genetic counselling.

Answer:

Method of genetic counselling:

Generally, a genetic counsellor can offer genetic counselling. This counselling includes the following steps-

1. At first, the counsellor collects the history of genetic diseases of different family members and related bloodlines. The collected data is then analysed to detect the genealogical trend of any disease.
2. Next, the cells or blood samples of the concerned individual are collected and tested in laboratories to find any genetic abnormality.
3. If any person is found with a genetic abnormality, the same tests are performed on his or her partner.
4. After analysing the genetic status of both partners, the chance of inheritance of any disease and its expected intensity are estimated.
5. Now, the couple is explained about the genetic status of their expected baby, either before their marriage or before conceiving.
6. If a foetus is found positive to any serious genetic disease, the parents are advised for medical term of pregnancy.

 

 

Importance of genetic counselling:

Occurrence of thalassemia, haemophilia and some other genetic diseases may be determined by genetic counselling. Genetic counselling has been proven effective if-

1. Both or any of the partners carry thalassemia-causing genes.
2. The parents are aged, especially when the mother is in her forties.
3. Genealogical lines show any history of thalassemia or other genetic diseases.
4. Foetal death occurs or the baby is born with a genetic disorder.

Question 8. Differentiate between thalassemia and haemophilia.

Answer:

Differences between thalassemia and haemophilia:

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Question 9. What symptoms are expressed in a child affected with thalassemia? What suggestions are given at the time of genetic counselling in such cases?

Answer:

Symptoms of thalassemia affected child:

1. Continuous fatigue or weakness,
2. Shortness of breath,
3. Yellowing of skin and eyes,
4. Slow growth and abdominal swelling,
5. Facial bone deformities and anaemia,
6. Dark colouration of urine

The suggestions are given at the time of genetic counselling

1. Not to conduct marriage between carrier male and female.
2. Not to conduct marriage between thalamic male and normal or carrier female or vice-versa.
3. Must rest for genetic diseases before marriage or child planning

Question 10. A colour-blind female married a normal male. Judge the probability of colour blindness among their children in the first filial generation. Show with the help of a cross how the first law of Mendel is deviated in the case of the Four o’clock plant in F₂ generation.

Answer:

Inheritance of colour blindness:

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Checker board of F₁ generation:

In the F, generation all the female born will be carrier and all the male born will be colour blind.

Deviation from Mendel’s first law:

 

 

Checker board of F₂ generation

Phenotypic ratio- Red: Pink: White = 1:2:1

Genotypic ratio-RR: RW: WW = 1:2:1
In the F₁, generation the red and white colour is not segregated in a 3:1 ratio rather the phenotypic ratio is 1:2: 1. The phenotypic and genotypic ratios both are the same i.e. 1: 2: 1: Thus in this case Mendel’s 1st law is clearly deviated.

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Chapter 3 Some Genetic Diseases Short Answer Type Questions

Question 1. Name two autosomal and two sex-linked hereditary diseases.
Answer:

Autosomal

1. Two autosomal hereditary diseases are- thalassemia and albinism.

Two sex-linked hereditary diseases

1. Two sex-linked hereditary diseases are- haemophilia and colour blindness.

Question 2. What is thalassemia?
Answer:

Thalassemia:

Thalassemia is an autosomal hereditary disease caused due to abnormal synthesis of globin peptide chains of haemoglobin. The formation of haemoglobin in a thalassemic patient is either stopped or reduced.

RBC of a thalassemic patient is smaller in size and of shorter life span (the normal life span of RBC is 120 days) and the patient suffers from severe anaemia.

Question 3. What is thalassemia major?
Answer:

Thalassemia major:

When both a and B-globin chains of haemoglobin are incompletely formed due to genetic mutation in both a. and ẞ-globin genes located on the 16th and 11th chromosomes respectively, the disease that occurs is known as thalassemia major.

Question 4. What is haemophilia?
Answer:

Haemophilia:

Haemophilia is a hereditary haemorrhagic disease, caused by an X-linked recessive gene. In this disease, blood lacks the capacity to coagulate and a patient may bleed to death even due to a small cut.

This disease occurs due to a deficiency of any one of the two blood-coagulating factors- factor VIII and factor IX.

Question 5. What is thalassemia minor?
Answer:

Thalassemia minor:

When any one of a or β-globin chains of haemoglobin is incompletely formed due to mutation i.e., there is one defective allele, the disease that occurs, is called thalassemia minor.

Question 6. What are the different types of haemophilia occurring in man?
Answer:

The different types of haemophilia occurring in man:

Generally, two types of haemophilia occur in men. These are haemophilia A and haemophilia B. Besides, there is another variety of haemophilia, seen among a few people. This is known as haemophilia C.

Question 7. What is the cause of haemophilia A?
Answer:

The cause of haemophilia A:

In the case of a specific recessive gene mutation in the X chromosome, a blood-coagulating factor, namely Factor VIII or anti-haemophilic factor (AHF) is not synthesised in the body. A deficiency of AHF prevents blood coagulation and causes haemophilia A.

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Question 8. Why is haemophilia more common among males?
Answer:

Haemophilia more common among males because

Haemophilia is an X-linked recessive genetic disorder. It is more common among males because they inherit only one X-chromosome. Since males carry one X-chromosome and one Y-chromosome, they develop symptoms of the disease if the single X-chromosome carries the recessive mutant allele.

Question 9. Why a carrier female of haemophilia A gene does not get affected by the disease?
Answer:

Somatic cells of a female carry two X chromosomes. When one of the two X chromosomes carries the recessive allele for haemophilia but the other carries the normal dominant allele, the female becomes a carrier.

This normal dominant allele suppresses the recessive haemophilia allele and prevents the female from being haemophilic. Therefore, a female, carrying a single recessive allele for haemophilia is not affected by haemophilia A.

Question 10. What is the cause of haemophilia B?
Answer:

The cause of haemophilia B:

In the case of a specific recessive gene mutation in the X chromosome, a blood-coagulating factor, namely factor IX or Christmas factor is not synthesised in the body. Absence or deficiency of this factor prevents blood coagulation and causes Haemophilia B.

Question 11. What is crisscross inheritance?
Answer:

Crisscross inheritance:

The transmission of a genetic character from father to daughter and from mother to son is known as crisscross inheritance. All X-linked characters show crisscross inheritance.

In this type of inheritance, the following inheritance pattern is seen-Father → Daughter → Grandson → Great granddaughter.

Question 12. Name few genetic disorders that can be prevented by undergoing genetic counselling.
Answer:

Genetic counselling is considered by couples before marriage to prevent the occurrence of any genetic disorder in their children. Examples of genetic diseases that can be prevented by undergoing genetic counselling are thalassemia, haemophilia, colour blindness, etc.

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Question 13. What is colour blindness?
Answer:

Colour blindness:

Colour blindness is a genetic disorder in which a person cannot detect red, green or blue colour. Red-green colour blindness occurs due to X-linked recessive mutation, but blue colour blindness is an autosomal recessive disorder.

Question 14. What is monochromacy?
Answer:

Monochromacy:

In the human retina, there are three types of colour-sensitive cone cells, which can detect red, Checkerboard green and blue colours separately. If 2 or 3 types of pigmented cone cells are absent the colour, and detecting ability is totally lost.

Such a person can view the world in black and white. This rare type of colour blindness is known as monochromacy.

Question 15. What is dichromacy?
Answer:

Dichromacy:

If out of the three types of cone cells, two remain active and one inactive, a person cannot detect that particular single colour. This type of colour blindness is called dichromacy.

The common red, green or blue colour blindness are an example of dichromacy.

Question 16. Write down the symptoms of Thalassemia.
Answer:

Symptoms of Thalassemia

1. Tiredness and fatigue.
2. Malformation of bone, especially bone of the face.
3. Blackish urine.
4. The yellowish colouration of skin and retardation of growth.

Question 17. Which of the three organs of the human body are damaged due to thalassemia?
Answer:

Liver, spleen and heart of human is damaged in thalassemia due to high accumulation of iron.

Question 18. Why haemophilia is more expressed in males than females?
Answer:

Haemophilia is a sex-linked recessive disorder whose gene is present on X chromosome. Males have only one X chromosome so if it fears the allele for haemophilia then it is always expressed.

But females have two X chromosomes. So for be haemophilic, each of the two must have the allele for chromosomes haemophilia, otherwise the disease is not expressed in females, so haemophilia is more expressed is females than in males.

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Question 19. If the mother is a haemophilic carrier and the father is haemophilic then what will be the nature of spring? Show it with a cross.
Answer:

 

 

Checker board

 

The nature of the offspring: 50%-haemophilic, 25%-Carrier, 25%-Normal.

Question 20. What will be the genotype of the father of a haemophilic girl?
Answer:

As both the chromosomes of a haemophilic girl contain an allele for colour blindness. So the father must have the X chromosome with an allele for colour blindness. He also possesses a Y chromosome. So his genotype is XCY.

Question 21. If the mother is colour blind then the son is always colour blind-Justify.
Answer:

A colour-blind mother always has two X chromosomes, each with an allele for colour blindness, i.e. genotype is XCXC. A son gets his X chromosome from the mother and his Y chromosome from the father.

So he will get an Xc chromosome from his mother and his genotype will be XCY. Thus he will be colour-blind.

Question 22. What is genetic counselling?
Answer:

Genetic counselling:

Genetic counselling is a process through which by analyzing the history of genetic disease Xin a family and by a genetic test, a prediction is made about the chances of the offspring to be normal or with the disease.

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Question 23. What is the importance of genetic counselling?
Answer:

The importance of genetic counselling:

1. It prevents the birth of child with a genetic disease.
2. It can help in calculating the chances of genetic disease of a child.

Question 24. Show with the help of the cross, how colour blindness is inherited.
Answer:

Colour blindness is a genetic disorder, caused by an X chromosome-linked mutant gene. Mutation in a single gene causes this disease in males, while a mutation in two genes on both the X- chromosomes will cause colour blindness in females.

So, when a colour-blind woman is married to a normal man, their sons will be colour-blind while daughters will be carriers of colour blindness. The cross is schematically represented below.

 

 

Checker board

 

Question 25. A daughter is born to a woman carrier for the colour-blind disease who married a colour-blind man. What would be the probability of expression of colour blindness in that girl child? Analyse your answer.
Answer:

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Checker board

 

Colour blind girl =  ½ x 100 = 50%

There will be a 50% chance of the daughter being colour-blind. This is because the X chromosome that she will obtain from her father will definitely bear an allele for colour blindness.

However, the X chromosome that she will obtain from her mother may either bear the allele for colour blindness or that for normal vision. So, she has a 50% chance of being colour-blind.

Question 26. Write the names of two genetic diseases which are expressed in human populations.
Answer:

Two genetic diseases expressed in the human population are-

1. Thalassemia and
2. Haemophilia.

Question 27. Give your opinion about probable suggestions which can be given to a pair of contenders before marriage in order to prevent the spread of a genetic disease from the society already known to you.
Answer:

The pair of contenders should be suggested to test whether they are carriers or have any particular disease. If both are a carrier for an autosomal disease or one is a carrier and the other have the disease then the marriage should be cancelled.

If they both are normal or if one is normal and the other is a carrier then they can marry.

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Question 28. One day students read an article in the newspaper on thalassemia and were very scared to know the fate of a thalassemic patient. Write what kind of measure they can take to eradicate this disease from the population.
Answer:

The measure they can take to eradicate this disease from the population are-

1. Genetic counselling before marriage and not to conduct marriage between carrier male and female or affected and normal individual.
2. If genetic counselling is not done before marriage then it must be done before conceiving a child and not to conceive in sensitive cases.

 

Chapter 3 Some Genetic Diseases MCQs

Question 1. A sudden and permanent change in genes is called—

1. Adaptation
2. Inversion
3. Mutation
4. Recombination

Answer: 3. Mutation

Question 2. A symptom of thalassemia is—

1. Scurvy
2. Anaemia
3. Rickets
4. Malaria

Answer: 2. Anaemia

Question 3. Anti-haemophilic globulin factor is known as—

1. Factor VII
2. Factor VIII
3. Factor IX
4. Factor X

Answer: 2. Factor VIII

Question 4. Plasma thromboplastin antecedent is also known as—

1. Factor VII
2. Factor VIII
3. Factor XI
4. Factor X

Answer: 3. Factor XI

Question 5. Thalassemia minor is also known as—

1. Thalassemia trait
2. Thalassemia hydrops
3. Cooley’s anaemia
4. Thalassemia child

Answer: 1. Thalassemia trait

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Question 6. Which of the following is a wrong statement about thalassemia?

1. It is a sex chromosome-linked trait
2. It is a hereditary disease
3. In this disease, structural deformity of haemoglobin is seen
4. In this disease, iron is deposited in the blood

Answer: 1. It is a sex chromosome-linked trait

Question 7. The disease, where a patient faces the problem of haemorrhage is known as—

1. Leukaemia
2. Haemophilia
3. Thalassemia
4. Colour blindness

Answer: 2. Haemophilia

Question 8. Thalassemia major is also known as—

1. Cooley’s anaemia
2. Cooley’s syndrome
3. Down’s syndrome
4. Turner’s syndrome

Answer: 1. Cooley’s anaemia

Question 9. The human chromosome that carries the n-globin gene is—

1. 11th
2. 12th
3. 14th
4. 16th

Answer: 4. 16th

Question 10. The human chromosome that carries the y3-globin gene is—

1. 11th
2. 12th
3. 14th
4. 16th

Answer: 1. 11th

Question 11. The colours, which a colour-blind person is unable to detect, are—

1. Violet-yellow
2. Indigo-blue
3. Red-green
4. Orange-yellow

Answer: 3. Red-green

Question 12. An example of autosomal hereditary disease is—

1. Haemophilia
2. Colour blindness
3. Thalassemia
4. Scurvy

Answer: 3. Thalassemia

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Question 13. Which of the following is a sex-linked hereditary disease?

1. Anaemia
2. Scurvy
3. Thalassemia
4. Haemophilia

Answer: 4. Haemophilia

Question 14. An example of X-linked inherited disease is—

1. Colour blindness
2. Night blindness
3. Thalassemia
4. Malaria

Answer: 1. Colour blindness

Question 15. The type of colour blindness, in which a person cannot detect green colour, is—

1. Haemophilia
2. Thalassemia
3. Protanopia
4. Deuteranopia

Answer: 4. Deuteranopia

Question 16. Which of the following diseases occurs mostly among males?

1. Red-green colour blindness
2. Thalassemia
3. Cancer
4. Tuberculosis

Answer: 1. Red-green colour blindness

Question 17. The gene causing colour blindness is located on—

1. X chromosome
2. Y chromosome
3. Z chromosome
4. M chromosome

Answer: 1. X chromosome

Question l8. The other name of blood coagulating factor VIII is—

1. ABB
2. HBA
3. PTA
4. AHF

Answer: 4. AHF

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Question 19. The disease, caused due to abnormal structure of the globin peptide chain, is—

1. Haemophilia
2. Thalassemia
3. Malaria
4. Scurvy

Answer: 2. Thalassemia

Question 20. Christmas disease is—

1. Haemophilia A
2. Colour blindness
3. Royal haemophilia
4. Haemophilia B

Answer: 4. Haemophilia B

Question 21. The other name of blood coagulating factor IX is—

1. AHF
2. HBA
3. HBB
4. PTA

Answer: 4. PTA

Question 22. To whom should a person approach to get pre¬marriage suggestions to avert any genetic disease in his or her offspring?

1. Psychologist
2. Genetic counsellor
3. Physician
4. Surgeon

Answer: 2. Genetic counsellor

Question 23. Genetic counselling is advisable for—

1. Thalassemia
2. Malaria
3. Hepatitis
4. Diarrhoea

Answer: 1. Thalassemia

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Question 24. Deficiency of which of the following factors causes haemophilia?

1. Factor VIII
2. Factor IX
3. Factor III
4. Factors VIII And IX

Answer: 4. Factors VIII And IX

Question 25. The type of haemophilia carried by Queen Victoria was—

1. Haemophilia A
2. Haemophilia B
3. Haemophilia C
4. Haemophilia D

Answer: 1. Haemophilia A

Question 26. Criss-cross inheritance occurs in case of—

1. Colour blindness
2. Diabetes
3. Anaemia
4. Scurvy

Answer: 1. Colour blindness

Question 27. The main problem in haemophilia is—

1. Disability of colour detection
2. Internal haemorrhage
3. Internal blood coagulation
4. High fever and inflammation

Answer: 2. Internal haemorrhage

Question 28. The plasma protein, which is not synthesised in haemophilia, is—

1. Albumin
2. Globulin
3. Fibrin
4. Chitin

Answer: 3. Fibrin

Question 29. The disease in which the function of the liver and heart is hampered due to iron accumulation—

1. Haemophilia
2. Anaemia
3. Thalassemia
4. Blood Cancer

Answer: 3. Thalassemia

Question 30. Which of the following is not true for thalassemia?

1. It is a sex-linked disease
2. This is a genetic disease
3. In this disease, haemoglobin is not formed properly
4. Iron is accumulated in this disease

Answer: 1. It is a sex-linked disease

Question 31. The reason behind Cooley’s anaemia is

1. Mutation
2. Adaptation
3. HbS
4. HbF

Answer: 1. Mutation

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Question 32. Cooley’s anaemia is—

1. α thalassaemia major
2. α thalassemia minor
3. β thalassemia major
4. β thalassemia minor

Answer: 3. β thalassemia major

Question 33. If both the parents are carriers of thalassemia then the chance percentage of their child to be thalassemic is—

1. 100%
2. 75%
3. 50%
4. 25%

Answer: 4. 25%

Question 34. Which of the following is not controlled by the autosomal gene of humans?

1. Roller tongue
2. Haemophilia
3. Thalassemia
4. Attached ear hole

Answer: 2. Haemophilia

Question 35. The factor responsible for haemophilia A is—

1. VI
2. VII
3. VIII
4. IX

Answer: 3. VIII

Question 36. The haemophilia Known as classic haemophilia is—

1. Haemophilia A
2. Haemophilia C
3. Haemophilia B
4. None of the above

Answer: 1. Haemophilia A

Question 37. If a haemophilic male marries a homozygous normal female then what will be the chances of a haemophilic child?

1. 0%
2. 25%
3. 50%
4. 75%

Answer: 1. 0%

Question 38. If a carrier haemophilic female marries a normal male then what will be the chances of their of their child to be haemophilic?

1. 0%
2. 25%
3. 50%
4. 75%

Answer: 2. 25%

Question 39. Blue blindness is called—

1. Presbyopia
2. Tritanopia
3. DuteranopiaProtanopia

Answer: 2. Tritanopia

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Question 40. The genotype of a colour-blind male is—

X^C+Y

X^CX^C

X^CY

X^CY^C

Answer: 3. X^CY

Question 41. The phenotype of Xc+Xc will be—

1. Normal female
2. Normal male
3. Carrier female
4. Colour blind female

Answer: 3. Carrier female

Question 42. If a male is colour blind then the chance of his son to be colour blind by his gene—

1. 0%
2. 50%
3. 75%
4. 100%

Answer: 1. 0%

Question 43. The probability of haemophilic girl children born to haemophilia carrier mother and normal father is—

1. 75%
2. 50%
3. 100%
4. 0%

Answer: 4. 0%

Question 44. Assess from the following, the probable genotype of parents having haemophilic son and normal daughter-

H || h, h

H || H, H

H || H, h

H || h, H

Answer:  3. H || H, h

 

Chapter 3 Some Genetic Diseases Answer In A Single Word Or Sentence

Question 1. Who coined the term ‘thalassemia’ and when?
Answer: Whipple and Bradford coined the term ‘thalassemia, in the year 1932.

Question 2. What percentage of iron is present in haemoglobin?
Answer: Haemoglobin contains 0.34% iron.

Question 3. Name the group of diseases caused due to defective haemoglobin.
Answer: A group of diseases caused due to defective haemoglobin is called haemoglobinopathy.

Question 4. Which protein is produced in reduced quantity in a thalassemia patient?
Answer: Haemoglobin, the conjugated protein, is produced in reduced quantity in a thalassemia patient.

Question 5. Which metal accumulates in the body of a thalassemia patient due to the rapid destruction of red blood cells?
Answer: Huge quantity of iron accumulates in the body of a thalassemia patient due to the rapid destruction of red blood cells.

Class 10 Life Science Wbbse

Question 6. Which organs of the body are mostly affected due to accumulation of excessive iron?
Answer: The heart, liver, spleen and endocrine system are mostly affected due to the accumulation of excessive iron.

Question 7. How much oxygen is carried by normal haemoglobin?
Answer: 1 g of normal haemoglobin carries 1.34 ml. of oxygen.

Question 8. What is the cause of the malformation of α and β- chains in the haemoglobin of a thalassemia patient?
Answer: Due to mutation in α and β-globin genes, α and β-peptide chains in the haemoglobin of a thalassemia patient are malformed.

Question 9. What is α thalassemia?
Answer:

α thalassemia

The type of thalassemia, caused due to incomplete formation of α-chains of haemoglobin, is known as thalassemia.

Question 10. What is β thalassemia?
Answer:

β thalassemia

The type of thalassemia, caused due to incomplete formation of β-chains of haemoglobin, is known as β thalassemia.

Question 11. In which disease, bleeding does not stop due to non-coagulation of blood?
Answer: In haemophilia, bleeding does not stop due to the non-coagulation of blood.

Question 12. Name the disease caused due to deficiency of clotting factor VIII in the blood.
Answer: Haemophilia A is caused due to deficiency of clotting factor VIII in the blood.

Question 13. Name the disease caused due to deficiency of clotting factor IX in blood.
Answer: Haemophilia B is caused due to deficiency of clotting factor IX in the blood.

Question 14. What is the other name of the haemorrhagic disease?
Answer: The other name of haemorrhagic disease is haemophilia.

Question 15. Which type of disease is haemophilia B?
Answer: Haemophilia B is an X chromosome-linked recessive hereditary disease.

Question 16. Why does haemophilia occur?
Answer: Haemophilia occurs due to a recessive mutation in an X-linked gene.

Question 17. In which chromosome of the human cell does the haemophilia gene occur?
Answer: Haemophilia gene occurs in X chromosome of a human cell.

Question 18. What is the other name of haemophilia A?
Answer: The other name of haemophilia A is classical haemophilia.

Question 19. Name the disease-causing gene, which was first carried by Queen Victoria of Britain.
Answer: Queen Victoria of Britain was the first to carry the disease-causing gene of haemophilia B.

Question 20. Who are called protanopes?
Answer: People who are suffering from protanopia and hence, cannot detect red colour, are called protanopes.

Question 21. Who are called deuteranopes?
Answer: People who are suffering from deuteranopia and hence, cannot detect green colour, are called deuteranopes.

Question 22. Who are called tritanopes?
Answer: People who are suffering from tritanopia and hence, cannot detect blue colour, are called tritanopes.

Wbbse Class 10 Life Science

Question 23. Which type of male baby is expected from a colour blind mother and a normal father?
Answer: A colour-blind mother and a normal father will have a colour-blind son.

Question 24. Which type of thalassemia is predominant in India?
Answer: α thalassemia

Question 25. Which type of haemophilia is not a sex-linked disease?
Answer: Haemophilia C is caused by an autosomal mutation and hence, not a sex-linked disease.

Question 26. What is the reason behind the name ‘thalassemia’?
Answer: The disease thalassemia was first discovered in the people living near the mediterranean sea. In the Latin language sea is called ‘thalassa’ and so the disease is called thalassemia.

Question 27. Which chromosomes contain genes for the production of α and β chains of globin protein?
Answer: α chain-chromosome 11 and β chain- chromosome 16

Question 28. Give two examples of X-linked inheritence.
Answer: Haemophilia and colour blindness

Question 29. How much oxygen is carried by 1 gm of haemoglobin?
Answer: 1 gm haemoglobin carries 1.34 ml 0₂,

Question 30. Which disease is also known as bleeder’s disease?
Answer: Haemophilia

Question 31. What is cyanopia?
Answer:

Cyanopia

Sensitivity to blue light is called cyanopia.

Question 32. Which type of chromosome in humans carries the gene responsible for the disease thalassemia?
Answer: Autosome in human carries the gene responsible for the disease thalassemia.

Question 33. What is the cause of expression of haemophilia disease only at homozygous conditions?
Answer: Recessive characters are always expressed in homozygous conditions. Haemophilia is a recessive character. So it is expressed only at homozygous conditions.

 

Chapter 3 Some Genetic Diseases Fill In The Blanks

Question 1. The genetic disease, which was expressed for the first time in the British royal family, is ________.
Answer: Haemophilia

Question 2. Thalassemia is a ________ disease.
Answer: Genetic

Question 3. If the synthesis of ________ is hampered, a person develops severe anaemia.
Answer: Haemoglobin

Question 4. Regular blood transfusion increases ________ content in the body of a thalassemia patient.
Answer: Iron

Question 5. Haemophilia is a/an ________ chromosome-linked genetic disease.
Answer: X

Wbbse Class 10 Life Science

Question 6. Almost ________ % of haemophilia is caused by the deficiency of AHF.
Answer: 80

Question 7. Haemophilia B or ________ disease is caused by the deficiency of blood clotting factor IX.
Answer: Christmas

Question 8. The colour-detecting cells of the retina are known as ________ cells.
Answer: Cone

Question 9. The gene responsible for blue colour blindness is a/an ________ gene.
Answer: Autosomal

Question 10. Only ________ can be carriers in case of genetic diseases.
Answer: Females

Question 11. In ________ disease O2 transport capacity diseases.
Answer: Thalassemia

Question 12. ________ is an example of a sex-linked disease.
Answer: Haemophilia

Question 13. In ________ chromosome of humans ẞ globin gene is present.
Answer: 11th

Question 14. Cooley’s anaemia is ________.
Answer: ẞ Thalassemia major

Question 15. The cells of the eye associated with colour recognition is ________.
Answer: Cone cell

Question 16. All ________ will be colour-blind if the mother is colour-blind and the father is normal.
Answer: Sons

Question 17. A disease in the human population caused by a recessive gene located in the ‘X’ chromosome is ________.
Answer: Haemophilia

Question 18. ________ is a disease created by a sex-linked gene.
Answer: Haemophilia

 

Chapter 3 Some Genetic Diseases State True Or False

Question 1. Malaria, AIDS. hepatitis etc., are examples of genetic diseases.
Answer: False

Question 2. In thalassemia, bone marrow proliferates at an excessive rate.
Answer: True

Question 3. In thalassemia, the synthesis of globin protein is hampered.
Answer: True

Question 4. Haemophilia is an autosome-linked genetic disorder.
Answer: False

Question 5. Haemophilia A is caused by the restricted synthesis of factor VIII.
Answer: True

Wbbse Class 10 Life Science

Question 6. Haemophilia B is caused by the restricted synthesis of factor X.
Answer: False

Question 7. A protanope is unable to detect red colour.
Answer: True

Question 8. The gene responsible for blue colour blindness is located in the 8th chromosome.
Answer: False

Question 9. The pre-marriage suggestion to a couple for having a baby without any genetic disorder is known as genetic counselling.
Answer: True

Question 10. In an anaemic patient, oxygen transport is seriously hampered.
Answer: True

Question 11. Night blindness is an X chromosome-linked disease.
Answer: False

Question 12. The blood coagulation process is hindered in a haemophilic patient.
Answer: True

Question 13. Rod cells of the human retina help in colour detection.
Answer: False

Question 14. In the case of serious haemophilia, blood contains 1% more blood-coagulating factors than normal.
Answer: False

Question 15. 5-8% male of the total global population are colour-blind.
Answer: True

 

Chapter 3 Some Genetic Diseases Match The Columns

1.

Answer: 1-E; 2-A; 3-B; 4-C; 5-D; 6-G

2.

Answer: 1-E; 2-A; 3-B; 4-F; 5-C; 6-G

 

3.

Answer: 1-B; 2-A; 3-D; 4-C; 5-F; 6-E

4.

Answer: 1-F; 2-C; 3-D; 4-A; 5-B; 6-G

 

Chapter 3 Some Genetic Diseases Find The Odd One Out

Question 1. Widow’s peak, Rolling tongue, Haemophilia, Thalassemia
Answer: Haemophilia

Question 2. Protanopia, Deuteranopia, Hypermetropia, Tritanopia
Answer: Hypermetropia

Question 3. Hepatomegaly, Splenomegaly, Iron accumulation, Haemophilia
Answer: Haemophilia

Wbbse Class 10 Life Science

Question 4. Bleeding, Swelling of the joint, Royal disease, Protanopia
Answer: Protanopia

Question 5. Protanopia, Deuteranopia, Tritanopia, Haemophilia
Answer: Haemophilia

Question 6. Thalassemia, Albinism, Haemophilia, Colour blindness
Answer: Thalassemia

Question 7. Haemophilia, Colour blindness, Thalassemia, Myopia
Answer: Myopia

Question 8. Protanopia, Factor IX, Antihaemophilic factor, PTA
Answer: Protanopia

 

Chapter 3 Some Genetic Diseases Fill In The Blanks By Looking At The First Pair

Question 1. Haemoglobin deficiency: Thalassemia :: Blood coagulation disorder: _________
Answer: Haemophilia

Question 2. Protanopia: Red colour blindness Deuteranopia: _________
Answer: Green colour blindness

Question 3. Colour blindness: Sex-linked :: Rolling tongue: _________
Answer: Autosomal

Question 4. Continuous bleeding: Haemophilia:: Iron accumulation: _________
Answer: Thalassemia

Question 5. Splenomegaly Increase of spleen:: Hepatomegaly: _________
Answer: Increase of liver

Question 6. Thalassemia: Autosomal disease: Colour blindness: _________
Answer: Sex-linked disease

Question 7. Factor VIII: AHF:: Factor IX:_________
Answer: PTC

Question 8. Classic haemophilia Haemophilia A:: Christmas disease: _________
Answer: Hemophilia B

 

Chapter 3 Some Genetic Diseases Among The Four Concepts Given Three Of Them Belong To One Find That

Question 1. Protanopia, Deuteranopia, Tritanopia, Colour blindness
Answer: Colour blindness

Question 2. Colour blindness, Genetic disorder, Thalassemia, Haemophilia
Answer: Genetic disorder

Question 3. Colour blindness, Haemophilia, Albinism, Sex-linked trait
Answer: Sex-linked trait

Wbbse Class 10 Life Science

Question 4. a globin, ẞ globin, Heme, Haemoglobin
Answer: Haemoglobin

Question 5. Thalassemia, Haemophilia, Genetic counselling, Colour blindness
Answer: Genetic counselling

Question 6. Protanopia, Deuteranopia, Tritanopia Colour blindness
Answer: Colour blindness

 

Chapter 3 Some Genetic Diseases Advanced Questions And Answers

Question 1. What are Mendelian and Non-Mendelian traits? Give example.
Answer:

Mendelian traits

The character which is controlled by one pair of alleles located on the same locus is called a Mendelian character. For example, the stem height of a pea plant.

Non-Mendelian traits

The character which is controlled by more than two alleles or more than two genes located in different loci are called Non-Mendelian traits.

Example-human height.

Question 2. What are multiple alleles?
Answer:

Multiple alleles

When there are more than two alleles of a gene then they are called multiple alleles. The gene responsible for human blood.group is a gene with three alleles-I^A, I^B and i.

Question 3. What is a polygenic character?
Answer:

Polygenic character

A character which is controlled by two or more than two genes is called a polygenic character. Example-Human body colour. It is a deviation from Mendelism.

Question 4. Write down some methods of treatment for thalassemia.
Answer:

Methods of treatment for thalassemia

1. Blood transfusion,
2. Iron chelation,
3. Bone marrow transplantation from a normal man.

Question 5. In which countries or regions of the world is thalassemia seen more?
Answer: Southeast Asia, India, Middle East and Africa.

Question 6. In which country or regions of the world is B thalassemia seen more?
Answer: Mediterranean region, Northern Africa, Western Asia.

Question 7. What is haemoglobin H disease?
Answer:

Haemoglobin H disease

Haemoglobin H disease is a form of alpha thalassemia in which reduced formation of a Globin chain takes place due to mutation in its gene. It leads to moderately severe anaemia.