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Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF STOMATOLOGY
- Issue:
- 5
- DOI:
- 10.3760/j.issn:1002-0098.2007.05.004
- Key Word:
- DNA突变分析;X连锁无汗性外胚叶发育不全;ED1基因
Abstract： 目的 探讨国内X连锁无汗性外胚叶发育不全家系中ED1基因的突变情况,为该病的遗传咨询、产前诊断、确诊携带者提供依据.方法 收集2个X连锁无汗性外胚叶发育不全家系及1个散发患者的外周血样本,盐析法提取基因组DNA,采用聚合酶链反应(polymerase chain reaction,PCR)和直接测序对ED1基因进行突变检测.结果 家系一患者ED1基因第9外显子发生错义突变(1045G＞A),家系二和散发患者ED1基因第3外显子发生错义突变,分别为467G＞A和466C＞T.结论 ED1基因的错义突变可导致X连锁无汗性外胚叶发育不全.这3个突变与国外学者的报道一致.
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