You are interested in sex determination. A. If a patient had a mutation in a gen

Question

You are interested in sex determination.

A. If a patient had a mutation in a gene that was active in late testes differentiation, would the patient show as male or female? What phenotypes would the patient show?

B. Two male patients show up in a fertility clinic. Their genomes were examined. One was found to be XX, sry+, while the second patient was found to be XX, sry-. In ONE sentence, explain how the two men could be XX. Would these men be fertile (i.e., able to have children)?

EARLY FETAL GONADAL DIFFERENTIATION GADO4SG MAP3K1/4 P38 GATA4 SP1 PGO2 FGF CTED2 ?SF 1 RY?'s00? TESTIS DIFFERENTIATION Testicular coelomie vessel sox1O VEGF A PDGF-B Activin B DAXI FST WNT4 RSP01-Beatenin ? OVARY DIFFERENTIATION

Explanation / Answer

A. Because the mutation occurs in the gene which active late testes differentiation the patient show the sex(as male or female). And the phenotypes will be male.

B. During fertilisation X chromosome with sry gene combine with x chromosome from mother and produce xx male, sry+.

The mutation in autosomal gene is the reason of xx male, sry -. They are infertile.

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