[一个完全性雄激素不敏感综合征家系中雄激素受体基因的突变分析]
[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].
作者信息
Wu Weiqing, Luo Fuwei, Geng Qian, Hao Ying, Chen Wubin, Cai Jun, Xie Jiansheng
机构信息
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, 518048 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):606-9. doi: 10.3760/cma.j.issn.1003-9406.2009.06.001.
OBJECTIVE
To study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.
METHODS
PCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.
RESULTS
The DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species.
CONCLUSION
The E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome.
目的
研究一个完全性雄激素不敏感综合征家系中雄激素受体基因的突变情况，并探讨该突变的致病性。
方法
采用聚合酶链反应（PCR）及DNA测序技术研究雄激素受体（AR）基因突变；用Mbo I限制性内切酶检测正常对照中该突变的存在情况；通过比较不同物种间氨基酸序列分析突变位点的保守性。
结果
3例患者的DNA序列在第4外显子681密码子处均存在相同的单核苷酸替换，即GAG突变为GAT，该位点位于AR受体的配体结合域，导致AR受体中谷氨酸被天冬氨酸替代。其母亲为E681D杂合子。正常对照中未检测到E681D突变。E681位点在不同物种中极其保守。
结论
AR基因的E681D突变是导致完全性雄激素不敏感综合征的一种新突变。
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