Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism

We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G<FONT FACE="Symbol">®</font>A in case 1, within exon C, changing codon 615 from Arg to His; G<FONT FACE="Symbol">®</font>A in case 2, within exon E, changing codon 752 from Arg to Gln, and C<FONT FACE="Symbol">®</font>T in case 3, within exon B, but without amino acid change.

Bibliographic Details

Main Authors:	Cabral,D.F., Maciel-Guerra,A.T., Hackel,C.
Format:	Digital revista
Language:	English
Published:	Associação Brasileira de Divulgação Científica 1998
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008
Tags:	Add Tag No Tags, Be the first to tag this record!