Question

Please, help me with Q 4,5,6. Thanks !

Look for Sickle cell anemia in OMIM and answer the following questions: 1. What is the inheritance pattern? 2. Which is/are the gene mutated and its/their chromosomal location (chromosome number and arm)? 3. Which of the following factors affect the severity of the phenotype? (Select all that apply and show a screenshot of the source from which you got your answer) Other genes b. Environmental factors a. Behavioral factors C. d. None of the above 4. Is there a population more affected by the disease? If so, which one and why do you think that population is more affected? 5. What is a rapid and sensitive method for diagnosis of Sickle cell anemia without sequencing the gene? 6. Given the following pedigree: Which can be the genotype(s) of individual I. 1, I.2 and II.4? b. a. What is the genotype of individual III.3? If there is more than one possibility indicate the probability of each genotype. c. If individual II.7 has a son, which is the chance he is affected? And a daughter instead? 2 34

Answer 1

Answer. 4. African population has more affected individual affected by sickle cell anemia. This population is more affected as the percentage of heterozygous individual is higher and result in the chance of having homozygous recessive for sickle cell disease trait.

Answer 5. HemoType SC™ is the rapid and sensitive method for diagnosis of sickle cell anemia without sequence of gene.

Answer 6 a) let the HbS is for normal and Hbs is sickle cell anemia .

So the genotype of I-1 = HbS HbS

I-2 is HbS Hbs

II- 4 HbS Hbs

B) III-3 genotype = HbS Hbs because mother is affected so it will take only Hbs from mother and father is heterozygous so it will receive either HbS or Hbs but individual is healthy so the person (III-3) should be heterozygous.

C) if individual II-7 have son then chance of affected son can be 100%, 50 % or null depend on the female partner.

If female partner is homozygous dominant (HbS HbS ) then child will be heterozygous so no chance of affected,

if female partner is homozygous recessive then child will be 100% affected

If female partner is heterozygous then chance of being affected is 50%.

The pattern of sickle cell anemia is autosomal recessive condition. So chance of both male and female is 50%