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Create a pedigree by following the guidelines and facts given in the attached document.

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Ahmed investigated the family history from his mother’s side and collected the following information:

1. Ahmed’s grandmother (uncle Abdulla’s mother) had sickle-cell disease.

2. Ahmed’s grandfather (uncle Abdulla’s father) did not have sickle-cell disease.

3. Ahmed’s mother and father do not have the disease.

4. Ahmed’s mother has two siblings: Abdulla, who has the disease, and Fatima, who is healthy. Ahmed’s mother is the eldest, and Fatima is the youngest.

5. Uncle Abdulla is married to a healthy woman. He has four children:

· Hamad (32) shows the symptoms of the disease.

· Khalifa (12) is healthy.

· Naser (24) is healthy.

· Shaikha (26) shows the symptoms of the disease.

6. Ahmed’s two siblings showed no signs of the disease. His sister Aisha is older than him, and his brother Salem is younger.

 

 

To assess the quality of your work, check the following points:

 Did I correctly interpret the facts of the case?

· Your pedigree should have 3 generations

· 14 individuals

· Siblings listed in birth order.

Did I use the symbols correctly?

Have I labelled my pedigree clearly?

Have I presented a key for my pedigree?

Is my pedigree clearly and neatly presented?

1. Juan’s family has a history of sickle cell disease. Hisfather died of sickle cell disease complications when Juan was sixyears old. He remembers his father being in great pain. Juanmarries Gina. Gina’s maternal grandmother and paternal grandfatherhad sickle cell disease, but neither of her parents has thedisease. Juan does not want to have children because he isconvinced they will have sickle cell disease. Gina is not so sure.They have come to you for advice about having whether or not tohave children. Based on your calculations of the probability oftheir child getting sickle cell disease, what is your advice? Showyour calculations and explain your reasoning for your response. Itmay be helpful for you to draw pedigrees and possible Punnettsquares for both Juan’s and Gina’s families.

Questions 4-6. Sickle cell disease:
Sickle cell disease (sickle cell anemia) is a relatively common disorder in individuals of

African descent and affects approximately 1 in 500 African-Americans. Due to a mutation in an autosomal gene for hemoglobin, the homozygous recessive genotype leads to red blood cells that are relatively stiff and sticky, and deform into a sickle shape as they lose oxygen. This leads to problems in the spleen, and anemia.

There are hundreds of different hemoglobin alleles. Individuals heterozygous for the sickle cell allele and one non-sickle cell allele usually do not experience major complications or even noticeable symptoms. A genetic test is available to diagnose carriers.

James does not have sickle cell disease, neither does his mother or father, but his sister does. His wife Natasha does not have sickle cell disease, and neither of her parents does either. Natasha also has a sister who has sickle cell anemia and two brothers without the disease.

5.) If James and Natasha have a child, what is the probability that the child would be a homozygote for the recessive allele and have sickle cell disease? You may draw the Punnet square but please solve the problem using probability calculations, then explain your reasoning in 2-5 complete sentences.

1. (a) Describe the disorder of sickle cell disease. Include a description of the molecular defect, inheritance, clinical features, diagnosis and treatment.

(b) Name another beta-­globin mutation, and explain why this other mutation results in very different clinical features to sickle cell disease.

(c)A couple have three children. The first child has alpha-­thalassemia trait, the second has Hb H disease whilst the third is unaffected. The mother, from Vietnam, has alpha thalassemia trait whilst the father has no symptoms. Outline the probable genotypes and phenotypes of the couple and their children, and predict whether this couple is at risk of conceiving a child with a severe form of alpha-­thalassemia that is fatal in utero.