Qin Ying-Ying, Gao Xuan, You Li, Li Yuan, Yan Jun-Hao, Zhao Yue-Ran, Chen Zi-Jiang
Reproductive Medical Center, Affiliated Provincial Hospital, Shandong University, Jinan 250021, China.
Zhonghua Fu Chan Ke Za Zhi. 2008 Nov;43(11):828-30.
To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing in a large family.
PCR was performed to amplify the coding region of androgen gene, followed by direct sequencing in the patients with CAIS and relatives in this family.
A missense mutation Arg773His was identified in the patients (homozygous) and carriers (heterozygous).
Mutation Arg773His in the AR gene leads to CAIS in this family. Molecular genetic testing of CAIS facilitates not only prenatal genetic diagnosis but also preimplantation genetic diagnosis and offers genetic counseling for future pregnancies to abandon the transmission of the mutated X chromosome to the coming generation.
通过对一个大家庭进行分子遗传学检测来确诊完全性雄激素不敏感综合征（CAIS）的临床诊断。
采用聚合酶链反应（PCR）扩增雄激素基因的编码区，随后对该家庭中患有CAIS的患者及其亲属进行直接测序。
在患者（纯合子）和携带者（杂合子）中鉴定出一个错义突变Arg773His。
AR基因中的Arg773His突变导致了这个家庭中的CAIS。CAIS的分子遗传学检测不仅有助于产前基因诊断，还能进行植入前基因诊断，并为未来妊娠提供遗传咨询，以避免将突变的X染色体传递给下一代。
