HARD
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Consider the following disorders:

Haemophilia, Sickle cell anemia, Cystic fibrosis, Thalassemia, Phenylketonuria, Polydactyly, Kleinfelter's syndrome, Turner's syndrome

How many of the above disorders are mendelian autosomal disorders?

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Important Questions on Principles of Inheritance and Variation

EASY
Which of the following muscular disorders is inherited?
EASY
Which of the following most appropriately describes haemophilia?
EASY
The genetic disorder in which an individual has an overall masculine development, gynaecomastia and is sterile:
EASY
Conditions of a karyotype 2n±1 and 2n±2 are called
HARD
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.
MEDIUM
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?
EASY
A disease caused by an autosomal primary non-disjunction is
EASY
A change of single base pair in the gene for beta globin chain (in human haemoglobin) that results in the change of amino acid residue glutamine to valine which is due to
MEDIUM
If a colour-blind man marries a woman who is homozygous for normal colour vision, the probability of their son being colour-blind is
EASY
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?
HARD
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?
EASY
Point mutation is caused in which of the following diseases?
EASY
In an Organism, mutation in a single gene exhibits multiple phenotypic expression. Identify the underlying genetic mechanism in the above instance.
MEDIUM
Which one of the following conditions is not responsible for the presence of deoxygenated blood in the arteries of a newborn?
EASY

Statement (S): The heterozygous individuals for sickle-cell anaemia HbAHbS express disease phenotype and also carriers of the disease.

Reason (R): HbAHbS genotype individuals are resistant to severe effects of malaria.

The correct answer is

EASY
Thalassemia and sickle cell anaemia are caused due to a problem in globin molecule synthesis. Select the correct statement.
MEDIUM
An abnormal human baby with 'XXX' sex chromosomes was born due to:
HARD
In the following human pedigree, the filled symbols represents the affected individuals. Identify the type of given pedigree.


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