Qadesh Flalgus

Androgen receptor (AR) plays a significant role in developing and maintaining male phenotype and spermatogenesis. AR gene is located on the X chromosome at Xq11-12. It has eight exons. AR protein has four domains, N terminal transactivation domain (TAD), DNA binding domain (DBD), hinge region and ligand (androgen) binding domain. Masculinization of perinatal brain requires AR function and the expression of male behavior in adults is also mediated by AR dependent and independent androgen signaling. Multiple mutations have been identified in AR in patients with androgen insensitivity syndrome. We are investigating amino terminal activation domain (NTD) which is encoded by exon 1 of AR gene. Since there are  high number of mutations reported in Exon 1 of the AR gene. Mutations in exon 1 only comprise 25% of all the mutations in AIS patients. Blood samples from 40 subjects have been collected and their genomic DNA was extracted. Specific amplification of exon 1 AR will be amplified and sequenced to identify mutations in association with intersex phenotype. Using this data we can correlate the spectrum of ambiguous genitalia with specific genetic mutations on AR.