Sun Xueping, Shen Jiandong, Wu Wei, Xie Jiazi, Gao Chao, Qin Lianju, Cui Yugui, Liu Jiayin
Department of Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, Jiangsu 210029, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):270-3. doi: 10.3760/cma.j.issn.1003-9406.2013.03.004.
To identify potential mutation of ectodysplasin A (EDA) gene in a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia.
Blood samples were collected from the affected male proband, his family members and 103 unrelated individuals. Following extraction of genomic DNA, coding sequence of the EDA gene was amplified with PCR, and DNA sequencing was performed to detect potential mutation.
A novel missense mutation, c.822G>T (p.W274C), was identified in exon 7 of the EDA gene in the proband, whilst his mother was found to be a heterozygous carrier. The same mutation was also found in 5 other family members including one affected male and four females, but was absent in unaffected males and 103 unrelated individuals.
A c.822G>T mutation in exon 7 of the EDA gene probably underlies the disease in this Chinese family.
鉴定一个患有X连锁少汗型外胚层发育不良的中国家系中外胚层发育不良蛋白A（EDA）基因的潜在突变。
采集患病男性先证者、其家庭成员及103名无关个体的血样。提取基因组DNA后，用聚合酶链反应（PCR）扩增EDA基因的编码序列，并进行DNA测序以检测潜在突变。
在先证者的EDA基因第7外显子中鉴定出一个新的错义突变，c.822G>T（p.W274C），同时发现其母亲为杂合子携带者。在包括一名患病男性和四名女性在内的其他5名家庭成员中也发现了相同的突变，但未患病男性和103名无关个体中未发现该突变。
EDA基因第7外显子中的c.822G>T突变可能是这个中国家系中该疾病的病因。
