[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].

To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members.Total RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing.DNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H).A prenatal diagnostic method was established for detecting mutation of the AR gene in the pedigree. Long chain RT-PCR was first used for the detection of AR gene mutations.