Lesch-nyhan syndrome is an x-linked, rare, recessive disease caused by a mutation in the gene encoding for hypoxanthine-guanine phosphoribosyltransferase (HPRT1). A woman’s maternal grandfather suffered from lesch-nyhan syndrome. She is concerned her male child could have lesch-nyhan syndrome. Genetically, what is the chance that this child has lesch-nyhan syndrome?
a.) 0
b.) 1/8
c.) 1/4
d.) 1/16
e.) 1/2
Ans: option c. (1/4)
Explanation: It is given that disease is rare , so, we will consider that woman's maternal grandmother and husbands of woman and her mother are normal.
Now, Maternal Grand father affected so genotype = xY, Genotype of maternal grand mother = XX
hence, Genotype of woman's Mother = xX ,
Now, Genotype of woman's Father = XY
Genotype of woman = xX or XX
Son will be affected only if x is tranfered from women.
So, probability of transfer of x from women to son = 1/4
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