Mutation and the genetic disorders NCERT names — NEET & JEE Questions

Question 1 · difficulty L1 · recall

Monosomy X is associated with:

• A. Turner syndrome
• B. sickle-cell anaemia
• C. Klinefelter syndrome
• D. Down syndrome

Question 2 · difficulty L1 · recall

XXY chromosome complement is associated with:

• A. Klinefelter syndrome
• B. cystic fibrosis
• C. Turner syndrome
• D. Down syndrome

Question 3 · difficulty L1 · recall

Which chromosomal abnormality causes Down syndrome?

• A. Loss of one X chromosome in every case
• B. Monosomy of chromosome 21
• C. Trisomy of chromosome 18 only
• D. Trisomy of chromosome 21

Question 4 · difficulty L2 · understanding

Trisomy 21 causes:

• A. Turner syndrome
• B. Klinefelter syndrome
• C. phenylketonuria
• D. Down syndrome

Question 5 · difficulty L2 · understanding

A mutation is best described as

• A. a heritable change in genetic material
• B. a temporary change in body temperature
• C. a normal chromosome pairing event
• D. a protein that repairs DNA

Question 6 · difficulty L2 · understanding

Sickle-cell anaemia is caused by

• A. a point mutation in the beta-globin gene
• B. loss of an entire X chromosome
• C. trisomy 21
• D. a bacterial infection

Question 7 · difficulty L3 · application

A human male has the karyotype 47,XXY. Which disorder does this indicate?

• A. Klinefelter syndrome
• B. Turner syndrome
• C. Down syndrome
• D. Sickle-cell anaemia due to a globin-gene mutation

Question 8 · difficulty L3 · understanding

Which one of the following disorders is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin molecule?

• A. Thalassemia
• B. Sickle-cell anaemia
• C. Phenylketonuria
• D. Haemophilia

Question 9 · difficulty L3 · understanding

With the help of given pedigree, find out the probability for the birth of a child having no disease and being a carrier (has the disease mutation in one allele of the gene) in $F_3$ generation.

• A. $1 / 8$
• B. Zero
• C. $1 / 4$
• D. $1 / 2$

Question 10 · difficulty L3 · understanding

Aneuploidy is a chromosomal disorder where chromosome number is not the exact copy of its haploid set of chromosomes, due to : A. Substitution B. Addition C. Deletion D. Translocation E. Inversion Choose the most appropriate answer from the options given below :

• A. C and D only
• B. D and E only
• C. A and B only
• D. B and C only