摘要
目的探讨完全型雄激素不敏感综合征（CAIS）家系的致病基因突变。方法采用PCR及直接测序的方法，对1个CAIS家系中的雄激素受体基因外显子1～8分别进行测序研究。结果雄激素受体基因第6外显子发生G2683A错义突变，导致773位点的精氨酸被组氨酸取代Arg773His。结论雄激素受体基因Arg773His位点突变是该CMS家系的发病原因；对CAIS患者进行基因检测，可为遗传咨询、产前或植入前遗传学诊断提供依据。
Objective To confirm the clinical diagnosis of complete androgen insensitivity syndrome （CAIS） by molecular genetic testing in a large family. Methods 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. Results A missense mutation Arg773His was identified in the patients （homozygous） and carriers （heterozygous）. Conclusions 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.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2008年第11期828-830,共3页
Chinese Journal of Obstetrics and Gynecology
基金
国家重点基础研究发展计划（2006CB944004）
山东省自主创新重大科技专项计划（2006GG1102021）.
关键词
雄激素迟钝综合征
系谱
受体
雄激素
突变
Androgen-insensitivity syndrome
Pedigree
Receptors,androgen
Mutation
