Detection of the SRY gene in a 46,XY phenotypic female by the PCR-SSCP method

Abstract

The short arm of the human Y chromosome determines maleness, initiating the development of the testes. Mutations and deletions in this region affect gonadal differentiation, causing primary sex reversal of 46,XY.Cytogenetic analysis was performed and the sex-determining region of the Y chromosome (SRY) sequence was amplified by the polymerase chain reaction-single strand corformation polymorphism (PCR-SSCP) method. The patient showed a 46,XY chromosome arrangement while she was a phenotypic female. Also a shifted band was detected by the SSCP method.