Detection of aberrations in androgen receptor gene by analysis of single-stranded conformation polymorphisms in polymerase chain reaction products.

Analysis of single-stranded conformation polymorphisms in polymerase chain reaction (PCR) products (PCR-SSCP) is a sensitive method for detecting point mutations in genomic DNA. To investigate its utility in examining the androgen receptor gene, we analyzed data on a patient with the testicular feminization syndrome (TFS) with a known point mutation in exon C. We detected mobility shifts of fragments of the corresponding region. Since examination of the subject's brother (legally sister), who also has TFS, revealed an identical shift pattern, we sequenced the exon C of the sibling and detected a mutation identical to that in the former. We conclude that PCR-SSCP is available for screening mutations of the androgen receptor gene.