Type 1 Gaucher disease is a rare disorder resulting from not having enough gluco
ID: 148137 • Letter: T
Question
Type 1 Gaucher disease is a rare disorder resulting from not having enough glucocerebrosidase, an important enzyme that breaks down a fatty chemical called glucocerebroside. It is caused by an autosomal recessive allele and the disease is most common in population groups in which consanguineous marriage is not unusual. A woman is married to her first cousin, and the couple is planning to have a child, but discovers that their shared grandmother’s brother suffered from type 1 Gaucher disease (assume others in the family don’t have Type 1 Gaucher disease).
1. Draw the relevant parts of the pedigree (starting from the couple’s shared great grandparents).
2. What is the probability that the couple’s first child will have Type 1 Gaucher disease, assuming that all people who marry into the family are homozygous for the normal allele?
3. If the couple’s first child turns out to have type 1 Gaucher disease but the second child does not have it, what is the probability that their second child is a carrier?
Explanation / Answer
1.Male and Female one of them may act as carriers of the disease so there are chances that it passes to one child as a disease and the other may act as carrier.
2.In such case there are less chances of getting the disease because it may pass to the third generation but not to the immidiate generation in some cases but if one of the parent is already suffering with the disease then the disease may spread easily.
3. Even though the first child is suffering from the disease there are less chances of their second child being a carrier of the disease because that dosent spread so fast there are chances that if they plan for a third child he may be a carrier of the disease.
Related Questions
Navigate
Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.