完全雄激素不敏感综合征患者AR基因的分子诊断

Molecular Diagnosis of AR Gene in a Family with Complete Androgen Insensitivity Syndrome

目的:对一个完全雄激素不敏感综合征(CAIS)家系成员提供基因诊断,鉴定CAIS与雄激素受体(AR)基因突变之间的联系。方法:收集家系所有成员的外周血样本并提取DNA。结合患者临床资料,对候选基因AR的8个外显子及启动子区进行PCR扩增后直接测序。结果:患者AR基因的第4外显子有c.2169G>T(p.L723F)的突变,母亲为杂合突变但是表型正常。结论:c.2169G>T突变是导致本家系CAIS的主要原因。本研究鉴定的AR c.2169G>T突变,是首次在我国人群中发现的导致CAIS疾病的突变。此突变扩充了我国遗传学数据信息并可通过产前诊断预防患儿出生以达到优生的目的。

Objective：To perform a powerful genetic diagnosis for a Chinese pedigree of complete androgen insensitivity syndrome（CAIS）,in order to identify the relation between CAIS and androgen receptor（AR）gene.Methods：Blood samples of the whole family were collected and DNA was extracted.On the basis of clinical data,the direct sequencing of AR gene including 8exons and promoter were carried out on all members in this family.Results：We found the patient carried a homozygous c.2169G〉T mutation located on the fourth exon,whereas the mother carried heterozygous c.2169G〉T mutation even though having normal phenotype.Conclusion：The homozygous c.2169G〉T mutation was associated with CAIS in this pedigree,and was the first report caused this disease in Chinese people.This mutation enlarged the mutation data library in China and be propitious to the prenatal diagnosis in order to achieve the purpose of eugenics.