[The prenatal genetic diagnosis of a family with complete androgen insensitivity syndrome].

Objective: To identify the Androgen Receptor (AR) gene mutation of one family with complete androgen insensitivity syndrome (CAIS) and to establish the methods of prenatal genetic diagnosis for CAIS. Methods: The AR gene exons of the family were amplified by PCR and sequenced directly. Linkage analysis was performed by using the CAG repeats in the exon1 of AR gene to assure accuracy of the prenatal diagnosis. Results: We found a frameshift mutation c. 2546del A (p. Asn849Ile fsX34) in the exon7 of AR gene in the proband.The mutation had not been reported before.The mother of the proband went through two times prenatal genetic diagnosis for her next pregnancies, both fetuses were male and did not get the mutation.The results of the linkage analysis were consistent with the sequencing results. Conclusion: A novel AR mutations in a CAIS family have been confirmed. The method of prenatal genetic diagnosis was established, and worked effectively in the CAIS family.