BMD 404: Genetigeach Duine

Examination Questions and Answers

• BMD 404: Human Genetics (2 Credits)
• End of First Semester Examinations (2023/2024)
• Time Allowed: 3 Hours (Section A) 20 marks

Section A

• Question 1: Cystic fibrosis, sickle cell disease and Duchenne's muscular dystrophy are all single-gene disorders. Fragile X syndrome is not a single gene disorder
• Question 2: Biological development is not related to polymorphism. Biodiversity and genetic variation are related to polymorphism in nature.
• Question 3: Dominant disorders tend to appear in every generation of an affected family, dominance and recessiveness are intrinsic properties of an allele, and single-gene disorders affect about 1% of the population.
• Question 4: Autosomal dominant inheritance traits are equally distributed among sexes, do not skip generations, and 50% offspring are affected when an affected person mates with an unaffected person
• Question 5: Sex-linked recessive inheritance: most affected individuals are male, affected females come from affected fathers and affected/carrier mothers, affected males results from affected or carrier mothers

Section B

• Question 1 (a) Meiosis reduces chromosome number and rearranges genetic information through reduction division and recombination.
• Question 1 (b) (i) Punnett Square for homozygous dominant crossed with homozygous dominant individuals. (specific data needed)
• Question 1 (b) (ii) Determining the genotypic and phenotypic ratios for the homozygous dominant cross (specific data needed)
• Question 1 (b) (iii) Potential for sex-linkage in the given trait (specific data needed)
• Question 1(c) Punnett Square for a heterozygous individual crossed with a homozygous recessive individual. (specific data needed)
• Question 1 (c) Determining the genotypic and phenotypic ratios for the heterozygous to homozygous recessive cross (specific data needed)
• Question 1 (d) Potential for sex-linkage in the given trait (specific data needed)

Section C

• General Questions: covers various aspects of genetic concepts (specific data needed)

Section D

• Question 1 (a) Detecting aneuploidy in a fetus using cost-effective laboratory techniques (specific data needed)
• Question 1 (b) Differences in male and female sex development (specific data needed)
• Question 1 (c) Genetic basis of sex development (specific data needed)

Further Topics

• Single-gene inheritance: examples of disorders resulting from single-gene inheritance
• Red-green color blindness: inheritance as an X-linked recessive trait, scenario of a couple with colorblind daughter and normal complement of chromosomes
• Hypophosphatemia: X-linked dominant inheritance, predictions concerning progeny when a male with the disorder marries a normal female
• Chromosomal structural mutations: details on reciprocal translocation, effects on genetic abnormalities via mitosis

Fiosrachadh air galaran gèine leithid cystic fibrosis agus Duchenne's muscular dystrophy. Bheir an deuchainn seachad ceistean mu dhualchas gèine agus na càileasan a tha ceangailte ri falach. Tha feum air tuigse air galaran gèine agus an gèineachd cheangailte ri càileasan.