OBJECTIVETo identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family.

METHODSDNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.

RESULTSA single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls.

CONCLUSIONThe 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.

Androgen-Insensitivity Syndrome ; genetics ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Receptors, Androgen ; genetics ; Sequence Deletion ; genetics ; Young Adult