[一个患X连锁低汗性外胚层发育不良的家系的EDA基因突变分析]
[Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia].
作者信息
Li Mingyang, Yuan He, Li Jiyao
机构信息
West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan 610041, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):274-6. doi: 10.3760/cma.j.issn.1003-9406.2013.03.005.
OBJECTIVE
To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).
METHODS
Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.
RESULTS
A c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.
CONCLUSION
A c.467G>A mutation of the EDA gene probably underlies the disease in the family.
目的
检测一个患有X连锁少汗型外胚层发育不良（XLHED）的中国家系中EDA基因的潜在突变。
方法
从先证者、其亲属以及50名无血缘关系的健康对照者的外周血中提取基因组DNA。对EDA基因的外显子序列进行聚合酶链反应扩增和直接测序。
结果
在先证者、其母亲、2名舅舅和1名阿姨的EDA基因第3外显子中检测到c.467G>A突变（R156H）。在50名无血缘关系的健康对照者中未检测到相同突变。
结论
EDA基因的c.467G>A突变可能是该家系疾病的病因。
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