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目的探讨雄激素不敏感综合征(AIS)患者的雄激素受体(AR)基因突变情况以及相应的遗传咨询和产前诊断。方法应用染色体G显带核型分析技术、基因测序技术检测2013年云南省第一人民医院遗传诊断中心产前诊断的1例AIS患者及家系部分成员的AR基因,然后进行遗传学分析。结果核型分析显示先证者和胎儿的染色体核型为46,XY,先证者检出AR基因第4外显子2069-2071del ACG,母亲为AR基因缺失的携带者。该突变造成AR基因的691位氨基酸(天冬氨酸)的缺失,最后编码了918个氨基酸的截短AR蛋白。正常人群中未发现该突变。结论通过对家系成员的临床遗传学分析确定了1种AR基因病理性新突变,AR基因缺失691位氨基酸(天冬氨酸)的截短突变可引起完全型雄激素不敏感综合征。通过遗传咨询和基因检测,可对该家系做出准确的产前诊断。
Objective To investigate the mutation of androgen receptor (AR) gene in patients with androgen insensitivity syndrome (AIS) and related genetic counseling and prenatal diagnosis. Methods The gene of G-banding karyotype analysis and gene sequencing were used to detect the AR gene of 1 AIS patient and some family members of the First People’s Hospital of Yunnan Province during the prenatal diagnosis. Genetic analysis was then performed. Results Karyotype analysis showed that the karyotype of probands and fetuses was 46 and XY. The probands detected the 2069-2071del ACG gene of exon 4 of AR gene and the mother was the carrier of AR gene deletion. This mutation resulted in the deletion of amino acid 691 (aspartic acid) of the AR gene and finally encoded a truncated AR protein of 918 amino acids. This mutation was not found in the normal population. Conclusions A novel pathological mutation of AR gene was identified by clinical genetic analysis of members of the family. A truncated mutation in the 691 amino acid (aspartic acid) deletion of the AR gene results in a complete androgen insensitivity syndrome. Through genetic counseling and genetic testing, this family can make accurate prenatal diagnosis.