Describe the following genetic terms briefly, and include examples from described human diseases: Compound heterozygote, allelic homogeneity, allelic heterogeneity and haploinsufficiency


Examination question 1.

  1. Describe the following genetic terms briefly, and include examples from described human diseases:

Compound      heterozygote, allelic   homogeneity, allelic   heterogeneity and haploinsufficiency

  1. Retinoblastoma is a rare eye tumour which may hit children. The cancer may be either sporadic or inherited, and the genetic cause is mutations in the tumour suppressor gene RB1. Explain why this inheritance is

Examination question 2.

  1. A girl has a maternal aunt and a paternal uncle with cystic fibrosis. The parents and the grandparents of the girl do not have the disease. Draw a pedigree of this family. What is the probability that the girl has cystic fibrosis?
  2. Red-green color blindness is X-linked in humans. If a male is red-green color blind, and both parents have normal color vision, which of the male’s grandparents is most likely to be red-green color blind? Which of the these two grandparents, the grandmother or grandfather, is more likely to both be red-green color blind and the source of the allele inherited by their grandson? Explain why.
  3. A couple has a female child with Tay-Sachs disease, and three unaffected children. Neither parent nor any of the four biological grandparents of the affected child has had this disease. What is the most probable kind of inheritance in this disease? Explain you answer.

Examination question 3.

  1. Sickle cell disease is an autosomal recessive disorder of haemoglobin in which the β subunit have a missense mutation. In an African population of 10.000 individuals, 2.500 individuals were found to be heterozygous, whereas 25 individuals had sickle cell disease. Based on this information, determine the frequencies of the S allele (mutation) and the A allele (normal), and calculate the expected absolute genotype-distribution under Hardy-Weinberg equilibrium.
  2. What is the most likely explanation for the deviation from the Hardy-Weinberg equilibrium in this African population?
  3. What is meant by the term “founder effect” in population genetics?

Examination question 4.

  1. Twin-studies are often employed in order to separate the contribution of genetic from environmental influences in multifactorial diseases. For a given disease X, the concordance rate in monozygotic (MZ) twins was 75%, and 20% in dizygotic (DZ) twins. What do these concordance rates in MZ- and DZ twins indicate about the basis for disease X?
  2. Microsatellite loci represent a frequent form of genetic polymorphism. Describe the general characteristics of microsatellites, and explain why they are especially useful for genetic linkage analysis.
  3. A microsatellite-type polymorphism detects ten different alleles, each with a frequency of 0.10. What proportion of individuals would be expected to be heterozygous at this locus?
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