1. Which one of the following is not an genetic disease?
(a) Night blindness
(b) Albinism
(c) Haemophilia
(d) Colour blindness
[U.P.P.C.S. (Pre) 2017]
Ans. (a) Night blindness
- Night blindness is not caused by genetics. It is due to a lack of vitamin A. Albinism is a genetic disorder which affects the amount of melanin in the skin, hair and eyes.
- Haemophilia is a genetic disorder linked to gender and colour blindness is also a genetic disorder.
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2. Phenylketonuria is an example of an inborn error of metabolism. This ‘error’ refers to :
(a) hormonal overproduction
(b) atrophy of endocrine glands
(c) inherited lack of an enzyme
(d) non-disjunction
[I.A.S. (Pre) 1994]
Ans. (c) inherited lack of an enzyme
- PKU is a genetic disorder passed down through families. It is caused by a missing enzyme in the liver called phenylalanine hydroxylase.
- Without this enzyme, too much phenylalanine builds up in the body. This can cause mental disability, seizures, and problems with teeth and bones. Symptoms usually start to appear a few months after birth.
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3. A person affected by phenylketonuria disease suffers from :
(a) Kidney failure
(b) Liver failure
(c) Mental idiocy
(d) Impotence
[R.A.S./R.T.S.(Pre) 1999]
Ans. (c) Mental idiocy
- Phenylketonuria (PKU) is an inherited disease. It is caused by a genetic disorder which means the gene ‘P’ is not working correctly.
- This gene is responsible for creating an enzyme in the liver cells, called phenylalanine hydroxylase. This enzyme helps convert phenylalanine to tyrosine.
- When this enzyme is missing, the result is too much phenylalanine in the blood and other bodily fluids. This can lead to mental retardation, seizures, and dental and bone anomalies.
- It usually appears a few months after birth.
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4. The famous ‘Bubble Baby Disease’ is so called because :
(a) It is caused by water bubble
(b) The suffering baby makes bubbles of saliva
(c) The suffering baby is treated in a germ-free plastic bubble
(d) It is cured only water bubble
[U.P.P.C.S. (Pre) 1997]
Ans. (c) The suffering baby is treated in a germ-free plastic bubble
- Bubble Baby Disease, also known as Severe Combined Immunodeficiency (SCID), is a rare genetic disorder that stops T cells and B cells from developing properly.
- There are various forms of SCID, and the nickname ‘Bubble Baby Disease’ comes from the fact that babies with this condition are kept in sterile plastic bubbles to protect them.
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5. Haemophilia is a genetic disease carried by –
(a) Women appear in women
(b) Women, appear in men
(c) Men appear in women
(d) Men appear in men
[I.A.S. (Pre) 1993]
Ans. (b) Women, appear in men
- Haemophilia is an inherited disorder that affects mostly males and is often referred to as “bleeder’s disease”.
- It is caused by a lack of a protein in the blood plasma that is important for clotting, which can take up to 24 hours to occur.
- It was first discovered in Queen Victoria, which is why it is also known as royal haemophilia. Women can carry the gene, but it typically appears in men because men have one X chromosome while women have two.
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6. Haemophilia is :
(a) Caused by bacteria
(b) Caused by virus
(c) Caused by pollutants
(d) A hereditary defect
[U.P. Lower Sub. (Pre) 2015]
Ans. (d) A hereditary defect
- Haemophilia is a condition that runs in families and usually affects males. It is sometimes called “bleeder’s disease” because it stops the blood from clotting properly.
- It was first noticed in Queen Victoria, and because of this, it is sometimes called “royal haemophilia”.
- Women can have the gene, but it is usually seen in men because men only have one X chromosome while women have two.
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7. Which one of the following genetic diseases is sex-linked?
(a) Royal haemophilia
(b) Tay-Sachs disease
(c) Cystic fibrosis
(d) Hypertension
[U.P.P.C.S. (Spl.) (Pre) 2008]
[I.A.S. (Pre) 1999]
Ans. (a) Royal haemophilia
- Haemophilia is a genetic disorder mainly found in males. It’s also known as “bleeder’s disease” because people with the condition take longer to stop bleeding, due to a missing protein in their blood that helps with clotting.
- It was first noticed in Queen Victoria, so it’s sometimes called royal haemophilia. Women can carry the gene, but it usually only affects men because men only have one X chromosome, while women have two.
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8. Haemophilia is a hereditary disease which affects as –
(a) Lack of Hb
(b) Rheumatoid leant disease
(c) Lack in WBC
(d) Absence of blood clotting
[U.P.P.C.S. (Pre) 2003]
Ans. (d) Absence of blood clotting
- Haemophilia is a genetic condition that usually appears in males. It is sometimes referred to as “bleeder’s disease” due to a lack of a protein in the blood that helps with clotting, which can take up to 24 hours to take place.
- This condition was first noticed in Queen Victoria, which is why it is also called royal haemophilia. Females can have the gene, but it usually is seen in males since males have one X chromosome and women have two.
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9. The heritable disease is :
(a) Haemophilia
(b) T.B.
(c) Cancer
(d) Jaundice
[U.P.P.C.S. (Mains) 2007]
[Uttarakhand P.C.S. (Pre) 2006]
Ans. (a) Haemophilia
- Haemophilia is a genetic condition that usually affects males and is sometimes called “bleeder’s disease”. The body is missing a protein used to help the blood clot, which can take a day to happen.
- This issue was first noticed in Queen Victoria, which is why it is also called royal haemophilia. Women may carry the gene, but it usually shows up in men because men have only one X chromosome and women have two.
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10. Which of the following is not a genetic disorder?
(a) Down-syndrome
(b) Haemophilia
(c) Irritable Bowel Syndrome (IBS)
(d) Sickle Cell Anaemia
[Uttarakhand P.C.S. (Pre) 2010]
Ans. (c) Irritable Bowel Syndrome (IBS)
- Down syndrome, haemophilia and sickle cell anaemia are illnesses that are passed down from parents to their children.
- IBS is different and is not caused by genes. We don’t know what causes it but symptoms can range from stomach pain, feeling bloated and having either diarrhoea or constipation.
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11. In humans trisomy of chromosome number 21 is responsible for :
(a) Haemophilia
(b) Klinefelter Syndrome
(c) Down Syndrome
(d) Turner Syndrome
[R.A.S/R.T.S (Pre) 2018]
Ans. (c) Down Syndrome
- Down Syndrome, sometimes called trisomy 21, is a disorder caused by having an extra copy of chromosome 21.
- It is typically linked to a slow physical growth, mild to moderate learning difficulties, and specific facial features. It is also referred to as Mongolian idiocy.
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12. Trisomy 21 is known as :
(a) Evans syndrome
(b) Edwards syndrome
(c) Down syndrome
(d) Gray baby syndrome
[R.A.S./ R.T.S. (Pre) 2021]
Ans. (c) Down syndrome
- Down Syndrome, or trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21.
- It is usually linked to slower physical growth, mild to moderate mental disability, and certain physical features. People also call it Mongolian idiocy.
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13. Down syndrome is a genetic disorder, which is caused due to –
(a) Due to changes in the number of the chromosomes
(b) Due to changes in the structure of the chromosome
(c) Due to changes in the structure of D.N.A.
(d) Due to changes in the structure of R.N.A.
[R.A.S./R.T.S. (Pre) 1999]
Ans. (a) Due to changes in the number of the chromosomes
- Down Syndrome is a genetic problem caused by a difference in the number of chromosomes. \
- Instead of having two copies of chromosome 21, people with Down Syndrome have three copies. This condition is sometimes called Mongolian idiocy.
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14. Which one of the following is caused by the expression of a recessive gene present on sex chromosome ?
(a) Rheumatism
(b) Nervous shock
(c) Muscular dystrophy
(d) Cerebral hemorrhage
[I.A.S. (Pre) 1994]
Ans. (c) Muscular dystrophy
- Muscular dystrophy is an inherited condition that is passed down through families. It is caused by genes on the X-chromosome not working correctly.
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15. Match List-I (Disease) with List-II (Types of disease) and select the correct answer using the codes given below :
List-I List-II
A. Haemophilia 1. Deficiency disease
B. Diabetes 2. Genetic disease
C. Rickets 3. Hormonal disorder
D. Ringworm 4. Fungal infection
Code :
A B C D
(a) 2 3 4 1
(b) 2 3 1 4
(c) 3 2 1 4
(d) 3 2 4 1
[I.A.S. (Pre) 2000]
Ans. (b) 2 3 1 4
The correctly matched lists are as follows :
Haemophilia |
Genetic disease |
Diabetes |
Hormonal disorder |
Rickets |
Deficiency disease |
Ringworm |
Fungal infection |
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16. Which one of the following sets is correctly matched ?
(a) Diphtheria, Pneumonia – Sex-linked and Leprosy
(b) AIDS, Syphilis and – Bacterial Gonorrhoea
(c) Colour blindness, – Hereditary Haemophilia and Sickle cell anaemia
(d) Polio, Japanese B – Viral encephalitis and Plague
[I.A.S. (Pre) 1995]
Ans. (c) Colour blindness, – Hereditary Haemophilia and Sickle cell anaemia
- Diphtheria, pneumonia and leprosy are all caused by bacteria, while HIV/AIDS is caused by a virus. Syphilis and gonorrhoea are also bacterial diseases.
- Colour blindness, haemophilia and sickle cell anaemia are illnesses passed down from parents to children. Polio and Japanese B encephalitis
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17. In respect of women, men can suffer more of colour blindness because-
(a) They pass more through mental tensions
(b) They live out of home relatively more
(c) They have only one X-chromosome
(d) Commonly they have less fat
[41st B.P.S.C. (Pre) 1996]
Ans. (c) They have only one X-chromosome
- Colour blindness is passed down through families in a certain way that is linked to the X-chromosome.
- Males only have one X-chromosome, so if there is a change in the gene in just one cell, it can cause the condition.
- This is why males are more likely to be affected by X-linked recessive disorders than females who have two X-chromosomes and would need a change in both to be affected.
- A particular trait of this kind of inheritance is that fathers cannot pass it on to their sons.
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18. Which one of the following pairs is incorrectly matched?
(a) Thiamine – Beriberi
(b) Ascorbic acid – Scurvy
(c) Vitamin A – Colour blindness
(d) Vitamin K – Blood clotting
U.P. P.C.S. (Pre) 2016
Ans. (c) Vitamin A – Colour blindness
- Having too little Vitamin A can lead to night blindness, not color blindness. Color blindness is a genetic condition that is passed down through families in a specific way. Therefore, option (c) is not correct.
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19. If a colour blind man marries with normal women, then the symptoms of colour blindness is generated in :
(a) Sons
(b) Daughters
(c) Sons of sons
(d) Sons of daughters
[U.P.P.C.S. (Pre) 2009]
Ans. (d) Sons of daughters
- If a colorblind man and a normal woman get married, their sons will be normal and their daughter will be a carrier of the gene for colorblindness.
- If the carrier daughter then marries a normal man, about half of their sons and daughters will have the gene for colorblindness, meaning their sons will be colorblind and their daughters will be carriers.
- The other half of their sons and daughters will be normal.
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20. A colour blind person (man) get married to a normal woman whose parents were not colour blind.
The possibility of being colour blind in their children is –
(a) 25%
(b) 50%
(c) 100%
(d) 0%
[Uttarakhand U.D.A./L.D.A. (Pre) 2003]
Ans. (d) 0%
- If a colorblind man and a normal woman get married, their children will be normal (boys) and carriers (girls).
- If a carrier girl gets married to a normal man, then half of their kids will have the gene for colorblindness.
- The boys with this gene will be colorblind and the girls will be carriers. The other half of the kids will be normal.
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21. In the context of genetic disorders, consider the following :
A woman suffers from colour blindness while her husband does not suffer from it. They have a son and a daughter. In this context, which one of the following statements is most probably correct?
(a) Both children suffers from colour blindness
(b) Daughter suffers from colour blindness while son does not suffer from it
(c) Both children do not suffer from colour blindness
(d) Son suffers from colour blindness while daughter does not suffer from it
[I.A.S. (Pre) 2009]
Ans. (d) Son suffers from colour blindness while daughter does not suffer from it
- If a colour blind woman marries a man with normal vision, their sons will also be colour blind and their daughters will carry the colour blindness gene.
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22. In a patient of Thalassemia, the body is unable to synthesise –
(a) Vitamin D
(b) Hormones
(c) Haemoglobin
(d) Protein
[Uttarakhand P.C.S. (Pre) 2005]
Ans. (c) Haemoglobin
- Thalassemia is a genetic disease that affects the blood. People who have it don’t make enough of a protein called haemoglobin, which leads to a severe form of anaemia.
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23. Thalassemia is a hereditary disease which affects
(a) Blood
(b) Lungs
(c) Heart
(d) Kidney
[Uttarakhand P.C.S. (Pre) 2016]
[Jharkhand P.C.S. (Pre) 2013]
Ans. (a) Blood
- Thalassemia is an inherited condition that impacts the blood. People with it don’t produce enough of the protein haemoglobin, which results in a serious form of anaemia.
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