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What is Down-syndrome?

Important Questions on Principles of Inheritance and Variation

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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
A couple has two sons and two daughters. Only one son is colour blind and the rest of the siblings are normal. Assuming colour blindness is sex-linked, which ONE of the following would be the phenotype of the parents?
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
People suffering from albinism cannot synthesize:
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders

A woman heterozygous for colour blindness marries a colour-blind man. What would be the ratios of carrier daughters, colour-blind daughters, normal sons, and colour-blind sons in the F1 generation?

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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
A disease caused by an autosomal primary non-disjunction is
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
In the following human pedigree, the filled symbols represents the affected individuals. Identify the type of given pedigree.


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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Thalassemia and sickle cell anaemia are caused due to a problem in globin molecule synthesis. Select the correct statement.
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Children suffering from phenylketonuria are given food low in phenylalanine and supplemented with tyrosine. This is because they
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
A man whose father was colour blind marries a woman who had a colour blind mother and normal father. What percentage of male children of this couple will be colour blind?
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
An abnormal human baby with 'XXX' sex chromosomes was born due to:
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
If a colour-blind man marries a woman who is homozygous for normal colour vision, the probability of their son being colour-blind is
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
The genetic disorder in which an individual has an overall masculine development, gynaecomastia and is sterile:
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Pick out the correct statements:
(i) Haemophilia is a sex-linked recessive disease.
(ii) Down's syndrome is due to aneuploidy.
(iii) Phenylketonuria is an autosomal recessive gene disorder.
(iv) Sickle cell anaemia is an X-linked recessive gene disorder.
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Which of the following muscular disorders is inherited?
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Consider the following pedigree over four generations and mark the correct answer below about the inheritance of haemophilia.

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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
A human female with Turner's syndrome
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Select the correct match.
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Conditions of a karyotype 2n±1 and 2n±2 are called
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Match the human disorders shown in Group I with the biochemical processes in Group II. Choose the correct combination.
 
Group I Group II
P. Phenylketonuria i. Melanin synthesis
Q. Albinism ii. Conversion of Phenylalanine to Tyrosine
R. Homocystinuria iii. Tyrosine degradation
S. Argininemia iv. Methionine metabolism
  v. Urea Synthesis
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
A colourblind man marries a woman with normal sight who has no history of colour blindness in her family. What is the probability of their sons being colourblind?
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Biology>Genetics and Evolution>Principles of Inheritance and Variation>Genetic Disorders
Which of the following most appropriately describes haemophilia?