The pedigree showing the transmission of two rare phenotypes of humans – cataract and pituitary dwarfism is shown. Cataract sufferers are shown with solid left half and dwarfism sufferers are shown with solid right half.
a) The most likely inheritance of these phenotypes appears to be due to dominant allele. Two affected parents have given a progeny of 3 affected people. The inheritance of dwarfism appears to be due to a recessive allele as affected persons have unaffected parents. Both these traits are not sex-linked and hence, appear to be autosomally inherited.
b) The genotypes of all members in generation III can be deduced after assigning symbols to each of the genes.
• Presence of cataract – A
• Absence of cataract – a
• Absence of dwarfism – B
• Presence of dwarfism - b
The genotypes of the members in generation III are:
1. a/a; B/b
2. a/a; B/b
3. A/a ; B/-
4. a/a ; B/-
5. A/a ; B/b
6. A/a ; B/b
7. a/a ; B/-
8. a/a ; B/-
9. a/a ; b/b
c) A hypothetical mating between IV-1 and IV-5 would be the cross between the following genotypes:
a/a; b/b x A/- ; B/-
The probability of the first child being a dwarf with cataracts can be determined by checking out the genotypes of the parents. Since the genotype of IV-1 is homozygous recessive, we need to check the probability of the genotype of IV-5.
The probability that IV-5 is heterozygous for dwarfism is 2/3. The probability that she has the b allele will be 1/2.
Hence, the total probability that IV-5 has the b allele and will pass it to her child will be:
The probability that IV-5 is homozygous for cataracts would be 1/3. The probability that she is heterozygous for cataracts would be 2/3.
If she is homozygous, she will pass the cataract allele to her child. If she is heterozygous, the probability of passing it to her child is 1/2.
The probability that the first child is a dwarf with cataracts would be that the child should inherit the A and b alleles from its mother.
The probability of inheriting the b allele:
The probability of not inheriting the a allele:
The total probability would be:
The probability that the first child is a dwarf with cataracts would be 2/9.
The probability of having a phenotypically normal child would be calculated in this way:
The probability that the mother donates the a allele:
The probability that the mother donates the B allele:
The total probability would be:
Therefore, the probability of having a phenotypically normal child would be 2/9.