L12 Human Genetics

Question 1

Human Karyotype

Answer 1

Typical chromosome arrangement in human cells.

Question 2

Diploid

Answer 2

Cell with two complete sets of chromosomes.

Question 3

Aneuploidy

Answer 3

Numerical chromosome imbalance in cells.

Question 4

Trisomy 13

Answer 4

Condition with three copies of chromosome 13.

Question 5

XO Monosomy

Answer 5

Single X chromosome, no second sex chromosome.

Question 6

Live Births

Answer 6

Possible with trisomy 13, 18, 21, or XXY.

Question 7

Maternal Age Effect

Answer 7

Increased miscarriage risk with older maternal age.

Question 8

IVF Genetic Screening

Answer 8

Pre-implantation analysis for chromosomal normalcy.

Question 9

Blastocyst Biopsy

Answer 9

Procedure to select healthy embryos for transfer.

Question 10

SRY Gene

Answer 10

Sex-determining gene on the Y chromosome.

Question 11

Transgenic Mice

Answer 11

Mice genetically modified to study gene functions.

Question 12

Intersex Traits

Answer 12

Complexity in sex determination, ~1.7% occurrence.

Question 13

X-linked Inheritance

Answer 13

Inheritance patterns linked to genes on X chromosome.

Question 14

X-linked Recessive Disorders

Answer 14

More common in males, no father-son transmission.

Question 15

X-linked Dominant Disorders

Answer 15

Equally affects males and females, 50% transmission.

Question 16

Autosomal Dominant Disorders

Answer 16

Affected individuals in every generation.

Question 17

Autosomal Recessive Disorders

Answer 17

Requires both parents to be carriers.

Question 18

Pre-implantation Genetic Diagnosis (PGD)

Answer 18

IVF screening for over 600 genetic disorders.

Question 19

Polygenic Diseases

Answer 19

Complex diseases influenced by multiple genes.

Question 20

Polygenic Risk Scores

Answer 20

Estimates risk based on multiple genetic factors.

Question 21

HFEA

Answer 21

Regulatory body for fertility treatment in the UK.

Question 22

Haemophilia

Answer 22

X-linked recessive bleeding disorder.

Question 23

Cystic Fibrosis

Answer 23

Autosomal recessive disorder affecting lungs.

Question 24

Huntington’s Disease

Answer 24

Autosomal dominant neurodegenerative disorder.