中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (2): 121-122.

• 短篇论著 • 上一篇    下一篇

类脂质蛋白沉积症家系ECM1基因突变检测

王晓鹏1,刘艳2,王万卷2,王俊民2,肖生祥3   

  1. 1. 西安交通大学医学院第二附属医院
    2. 西安交通大学第二医院皮肤科
    3. 西安交通大学第二附属医院皮肤科
  • 收稿日期:2009-05-11 修回日期:2009-07-07 出版日期:2010-02-15 发布日期:2012-03-30
  • 通讯作者: 王晓鹏 E-mail:wangdctor@163.com
  • 基金资助:
    青年科学基金

Mutation analysis of the extracellular matrix 1 gene in a family with lipoid proteinosis

  • Received:2009-05-11 Revised:2009-07-07 Online:2010-02-15 Published:2012-03-30

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摘要： [摘要] 目的 检测一类脂蛋白沉积症家系细胞外基质蛋白1（ECM1）基因的突变，并探讨中国类脂蛋白沉积症家系ECM1基因的突变特点。方法 PCR扩增家系成员ECM1基因的全部外显子，并行DNA测序。以100例无关正常人作对照。结果 先证者及其胞兄的ECM1基因第六外显子均检测出第658位碱基发生T G纯合性突变，使220位的半胱氨酸转变为甘氨酸（p.C220G）。其父母均为该突变的杂合性携带者，该突变在100例无关正常对照中未被检测出。结论 p.C220G为引起本家系临床症状的特异性突变。

关键词: Urbach-Wiethe类脂蛋白沉积症, 基因, 突变

Abstract: [Abstract]　Objective To study mutations in the extracellular matrix protein 1 （ECM1）gene in a Chinese family with lipoid Proteinosis (LP). Methods: All exons of ECM1 gene were analyzed in each person of the families with PCR-DNA sequencing. DNA samples from 100 unrelated, normally pigmented adult individuals were also included as control. Results: Both affected siblings were shown to have a homozygous single nucleotide substitution, c.658T>G, in exon 6, which converts cysteine to glycine, designated p.C220G. Both parents were heterozygous for this mutation, which was not detected in 100 unrelated healthy controls. Conclusion: The mutation C220G is the underlying cause of Lipoid Proteinosis in this family, not due to common polymorphism.

Key words: Mutation