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4. ( 6 points) Below is a pedigree showing a family with a significant genetic d

ID: 276193 • Letter: 4

Question

4. ( 6 points) Below is a pedigree showing a family with a significant genetic disorder. Please answer the questions below 3 4 1 2 3 4 5 6 7 8 9 10 11 a. How many individuals are affected by the disorder in the pedigree? b. Are there individuals with parents who are unaffected by the disorder? c. Is there a generation where there are individuals of both genders with the disorder? If so which generation? d. What is the mechanism of inheritance of this disorder? e. Are there any obligate carriers in this pedigree? If so, who?

Explanation / Answer

a) All together there are 12 individuals affected by the disorder in these pedigree. All the affected individuals are represented by the black color.

b) Parents II(1,2) and II(3,4) are unaffected by the this disorder they may be carrying a heterozygous gens for the disorder hence the progeny is affected.

c) The offspring’s in the third generation are affected and consists of both male and female individuals. The offspring 5,7 of third generation shows us both gender are affected.

In the same case the offspring of the IV generation too have the offspring of both genders affected by the disorder.

d) The pattern seen is autosomal recessive as the disorder is skipping the generation and affecting the both male and females individuals we can say theta this disorder is autosomal recessive.

e) Yes there are obligate carriers in this pedigree which can transmit disorder when they mate with heterozygous person. The obligate persons are II(5),III(3,4,6,8,9,11) and IV(5,6,7,8)

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