$$\mathrm{3'\text{-}OH\text{ of one nucleotide} \longrightarrow \text{phosphate group} \longrightarrow 5'\text{-}C\text{ of next nucleotide}}$$

Question 1

Which of the following best describes the contribution of Sir Archibald Garrod to medical genetics?

Accepted Answer

He first proposed the concept of 'inborn errors of metabolism' after studying alkaptonuria.

Question 2

William Allan is known for which of the following achievements in the field of genetics?

Accepted Answer

He supported eugenics and founded the first Department of Medical Genetics in the U.S.

Question 3

Which category of genetic disease is most commonly associated with defects in chromosome number or structure?

Accepted Answer

Chromosome disorders

Question 4

A child is diagnosed with sickle cell anemia. Which gene and inheritance pattern are most likely involved?

Accepted Answer

Beta-globin gene on chromosome 11; recessive inheritance

Question 5

Which of the following is a multifactorial disease?

Accepted Answer

Congenital heart defect

Question 6

What is the correct number of nuclear chromosomes in a typical human somatic cell?

Accepted Answer

$$46$$

Question 7

Which of the following statements about DNA structure is correct?

Accepted Answer

DNA is a double helix with antiparallel strands held together by base pairing between purines and pyrimidines.

Question 8

During which phase of mitosis do sister chromatids separate and move to opposite poles?

Accepted Answer

Anaphase

Question 9

Which process is responsible for generating genetic diversity during gamete formation?

Accepted Answer

Crossing over during meiosis I

Question 10

A karyotype is used to:

Accepted Answer

Visualize and count chromosomes to identify structural abnormalities.

Question 11

Which of the following best describes the backbone of a DNA molecule?

Accepted Answer

Alternating sugar and phosphate groups linked by phosphodiester bonds

Question 12

Which equation correctly represents the number of chromosomes in human gametes after meiosis?

Accepted Answer

$$n = 23$$

Question 13

Which of the following is NOT a correct pairing in DNA?

Accepted Answer

Adenine with Uracil

Question 14

Which inheritance pattern is associated with Duchenne muscular dystrophy?

Accepted Answer

X-linked recessive

Question 15

Which of the following is a correct description of the Human Genome Project?

Accepted Answer

It completed a draft sequence of the human genome and identified genetic variability.

Question 16

Which of the following is a correct formula for the phosphodiester bond in DNA?

Accepted Answer

$$\mathrm{3'	ext{-}OH	ext{ of one nucleotide} \longrightarrow 	ext{phosphate group} \longrightarrow 5'	ext{-}C	ext{ of next nucleotide}}$$

Question 17

Which of the following genetic diseases is inherited in an autosomal dominant manner?

Accepted Answer

Huntington disease

Question 18

Which online resource is recommended for searching and evaluating the human genome?

Accepted Answer

UCSC Genome Browser

Question 19

Which of the following best explains why genetic ancestry can affect the prevalence of certain single gene diseases?

Accepted Answer

Different populations have unique allele frequencies due to historical genetic drift and selection.

Question 20

Which of the following is a correct statement about the transmission of genetic material during cell division?

Accepted Answer

Mitosis results in diploid daughter cells, while meiosis produces haploid gametes.

History of Medical Genetics & Introduction to the Human Genome

Study Guide - Practice Questions