Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>DNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H).</p><p><b>CONCLUSION</b>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.</p>