Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS).</p><p><b>METHODS</b>DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced.</p><p><b>RESULTS</b>DNA sequencing has revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop codon resulting premature termination for translation.</p><p><b>CONCLUSION</b>A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.</p>