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Detection of gene mutation in a pedigree with monilethrix
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 7
- DOI:
- 10.3760/j.issn:0412-4030.2006.07.002
- Key Word:
- 毛发疾病;角蛋白;基因;突变
Abstract： 目的研究念珠状发一家系基因突变情况及与表现型的关系.方法光镜下观察毛干结构,应用聚合酶链反应(PCR)和DNA直接测序技术检测基因突变位置和突变方式.结果光镜下患者的毛干呈粗细不均的梭形,似珍珠项链.家系中患者人毛发角蛋白6(hHb6)基因的第1 204位碱基鸟嘌呤(G)被腺嘌呤(A)替代,导致第7外显子出现E402K错义突变.家系中健康者和正常对照均未发现此突变.结论hHb6的E402K突变是该家系中患病成员发病的分子基础,念珠状发的基因型与表现型的不一致性,可能由基因突变及其他因素共同造成.
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