Question 1

A patient is diagnosed with Turner syndrome. Which karyotype would you expect to see in her cells, and what is the chromosomal basis for this condition?

Accepted Answer

45, XO; missing an X chromosome

Question 2

Which chromosomal mutation is most likely responsible for Cri-du-chat syndrome, and what is the definition of this mutation?

Accepted Answer

Deletion; loss of a chromosome segment

Question 3

A couple undergoes prenatal testing at 10 weeks using placental tissue. Which test are they most likely receiving, and what is a key advantage of this test?

Accepted Answer

Chorionic Villus Sampling (CVS); provides earlier results than amniocentesis

Question 4

Which inheritance pattern is most likely for cystic fibrosis, and what is the underlying genetic defect?

Accepted Answer

Autosomal recessive; defective chloride channel

Question 5

In a dihybrid cross between two heterozygotes ($$AaBb 	imes AaBb$$), what is the expected phenotypic ratio in the offspring?

Accepted Answer

$$9:3:3:1$$

Question 6

Which concept explains why genes located on different chromosomes are inherited independently, and what is the principle called?

Accepted Answer

Independent assortment; genes for different traits assort independently

Question 7

A woman is a carrier for a recessive X-linked disorder. If she has children with a normal male, what is the probability that her son will inherit the disorder?

Accepted Answer

$$50\%$$

Question 8

Which process in molecular genetics is responsible for synthesizing RNA from a DNA template, and which enzyme catalyzes this reaction?

Accepted Answer

Transcription; RNA polymerase

Question 9

During protein synthesis, which step involves tRNAs adding amino acids to the growing polypeptide chain, and what is the name of this step?

Accepted Answer

Elongation

Question 10

A mutation causes a stop codon to appear prematurely in an mRNA sequence. What type of mutation is this, and what is its likely effect?

Accepted Answer

Nonsense; stop codon created

Question 11

Which term describes a group of genes regulated together in prokaryotes, and what is the function of the operator within this system?

Accepted Answer

Operon; on/off switch for gene expression

Question 12

A scientist uses PCR (Polymerase Chain Reaction) in a forensic investigation. What is the main function of PCR in this context?

Accepted Answer

Amplifies DNA

Question 13

Which hormone is responsible for maintaining the corpus luteum during early pregnancy, and what is its clinical significance?

Accepted Answer

Chorionic Gonadotropin (hCG); used in pregnancy tests

Question 14

Which germ layer forms the muscles, bones, and blood during embryonic development?

Accepted Answer

Mesoderm

Question 15

A geneticist observes that a single gene affects multiple traits, such as sickle-cell anemia causing both anemia and resistance to malaria. What is this phenomenon called?

Accepted Answer

Pleiotropy

Question 16

Which structure in the male reproductive system is responsible for sperm storage and maturation?

Accepted Answer

Epididymis

Question 17

A pedigree analysis reveals a trait that appears in every generation and affects both males and females equally. What is the most likely inheritance pattern?

Accepted Answer

Autosomal dominant

Question 18

Which process equalizes X-linked gene expression between XX females and XY males?

Accepted Answer

Dosage compensation

Question 19

During DNA replication, which enzyme is responsible for synthesizing new DNA strands?

Accepted Answer

DNA polymerase

Question 20

A patient is diagnosed with chronic myeloid leukemia (CML). Which chromosomal mutation is most likely involved in this disease?

Accepted Answer

Translocation

Advanced Genetics & Reproduction: Structured Study Notes

스터디 가이드 - 연습 문제

학습 가이드 - 플래시카드