Question 1

Which of the following chromosomal aberrations is most likely to result in a gene dosage imbalance, potentially leading to developmental disorders?

Accepted Answer

Duplication

Question 2

A patient is diagnosed with MERFF (Myoclonic Epilepsy with Ragged Red Fibers). Which type of inheritance pattern is most consistent with this disorder?

Accepted Answer

Mitochondrial inheritance

Question 3

Which experiment provided direct evidence that DNA is the genetic material in eukaryotes?

Accepted Answer

Hershey & Chase experiment

Question 4

A child inherits a mutation in the mitochondrial DNA (mtDNA) that affects ATP production. Which parent is most likely to have transmitted this mutation?

Accepted Answer

Mother

Question 5

Which of the following best describes a Robertsonian translocation?

Accepted Answer

Fusion of two acrocentric chromosomes at their centromeres

Question 6

In the Meselson-Stahl experiment, which isotope was used to label the DNA to demonstrate semiconservative replication?

Accepted Answer

$$^{15}N$$

Question 7

Which of the following is a consequence of a balanced translocation in a carrier during gamete formation?

Accepted Answer

Some gametes may have duplications or deletions leading to unbalanced offspring

Question 8

Which of the following statements about telomerase is correct?

Accepted Answer

Telomerase is a ribonucleoprotein that adds repetitive sequences to the 3' end of chromosomes

Question 9

A pedigree shows a trait passed from mother to all her children, but not from father to any child. Which inheritance pattern does this suggest?

Accepted Answer

Mitochondrial inheritance

Question 10

Which of the following is NOT a feature of DNA as described by Watson & Crick?

Accepted Answer

Base pairing between purines only

Question 11

A gene duplication event can lead to which evolutionary outcome?

Accepted Answer

Formation of gene families through divergence

Question 12

Which of the following best explains why mtDNA is more vulnerable to mutations than nuclear DNA?

Accepted Answer

mtDNA has limited repair mechanisms and is exposed to reactive oxygen species

Question 13

Which equation correctly represents Chargaff's rule for base pairing in double-stranded DNA?

Accepted Answer

$$[A] = [T]$$ and $$[G] = [C]$$

Question 14

Which analytical technique is used to separate DNA fragments by size?

Accepted Answer

Electrophoresis

Question 15

A child is born with a deletion on chromosome 15 inherited from the father. Which syndrome is most likely?

Accepted Answer

Prader-Willi syndrome

Question 16

Which of the following is a function of the primer in DNA replication?

Accepted Answer

Provides a free 3' hydroxyl group for DNA polymerase to extend

Question 17

Which of the following is true about semiconservative DNA replication?

Accepted Answer

Each daughter DNA molecule contains one parental and one newly synthesized strand

Question 18

Which of the following is a real-world consequence of a fragile site on a chromosome?

Accepted Answer

Increased risk of cancer due to chromosomal instability

Question 19

Which of the following best describes the function of DNA polymerase III in E. coli?

Accepted Answer

Synthesizes the majority of the new DNA strand during replication

Question 20

A reciprocal translocation between chromosomes 9 and 22 is associated with which type of cancer?

Accepted Answer

Chronic myelogenous leukemia (CML)

Genetics Study Guide: Chromosomal Aberrations, Inheritance, and Molecular Genetics

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