Genetic Disorders

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Genetic Disorders: Overview

This topic covers concepts, such as, Genetic Disorders, Chromosomal Disorders, Klinefelter’s Syndrome & Turner’s Syndrome etc.

Important Questions on Genetic Disorders

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Choose the Mendelian disorder that is a sex-linked recessive disorder.

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Which of the following species is rarely haemophilic?

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The trait can be described as:

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Sickle cell anaemia is characterised by

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XO chromosomal abnormality in humans causes _____.

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Genes of which one of the following is present exclusively on the X-chromosome in humans?

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Choose the correct the 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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Select the correct option regarding the figure given below:

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A colour blind man marries with a daughter of colour blind father, the generation will be half sons will be colour blind.

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A human female with Turner’s syndrome exhibits male characters.

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Which of the following statement is/are correct for Turner’s syndrome ?

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Fill in the blank with the correct option given in the bracket.

_____ (Phenylalanine hydroxylase/Phenyl oxygenate) is not synthesized in phenylketonuria disease?

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Which of the following is/are sex-linked disease?

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The progeny of normal woman and colour-blind father will be

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Which of the following statements are correct?

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Due to non-disjunction of chromosomes during spermatogenesis, sperms carry both sex chromo-somes (22 A + XY) and some sperms do not carry any sex chromosome (22 A + O). If these sperms fertilise normal eggs (22 A + X), what type of genetic disorders appear among the offspring ?

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The X/O syndrome is called Turner’s syndrome.

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Sickle-cell anaemia, the best example of natural selection, is due to gene modification related to amino acid of first or second beta chain?

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Which one of the following genotype does NOT represent aneuploidy in human being?