中华皮肤科杂志 ›› 2005, Vol. 38 ›› Issue (11): 659-661.

• 论著 •    下一篇

类脂质蛋白沉积症一家系的基因突变检测

王昌媛1, 章平肇2, 张福仁1, 刘杰2, 田洪青1, 余龙2   

  1. 1. 山东省皮肤病性病防治研究所, 济南 250022;
    2. 复旦大学遗传工程国家重点实验室
  • 收稿日期:2004-12-30 发布日期:2005-11-15
  • 通讯作者: 张福仁, E-mail:zhangfuren@hotmail.com E-mail:zhangfuren@hotmail.com
  • 基金资助:
    山东省科技攻关计划基金资助项目(032103107)

ECM1 Gene Mutations in a Family with Lipoid Proteinosis

WANG Chang-yuan1, ZHANG Ping-zhao2, ZHANG Fu-ren1, LIU Jie2, TIAN Hong-qing1, YU Long2   

  1. Shandong Provincial Institute of Dermatology and Venereology, Jinan 250022, China
  • Received:2004-12-30 Published:2005-11-15

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摘要： 目的 研究类脂质蛋白沉积症一家系的细胞外基质蛋白1(ECM1)基因突变.方法 采用DNA双向测序法直接检测类脂质蛋白沉积症一家系中患者及其父母、同胞、子女的ECM1基因.结果 直接测序检测出本家系新的突变位点,患者为遗传复合体,ECM1的两个等位基因分别存在错义突变(C220G)和无义突变(R476X).在50个正常汉族人的ECM1基因中未发现有突变.患者父亲为突变C220G的携带者,而母亲为突变R476X的携带者.患者的子女、同胞及同胞子女中大部分为突变C220G或R476X的携带者.结论 本类脂质蛋白沉积症家系存在新的ECM1基因突变位点.

关键词: 类脂蛋白累积病, 细胞外基质蛋白质类, 突变

Abstract: Objective To study mutations in the extracellular matrix protein 1 (ECM1) gene in a family with lipoid proteinosis (LP). Methods Bi-directional DNA sequencing was used to detect the ECM1 gene in patients with LP as well as among their parents, siblings and children. Results Sequencing from the affected individuals revealed a new compound heterozygote of missense/nonsense mutations, C220G/R476X, which were not found in the control group. The father was a carrier of the missense mutation C220G and the mother was a carrier of the nonsense mutation R476X, both on one allele. The other siblings, the patients' children and their siblings' children were carriers of either C220G or R476X mutations. Conclusion A new compound heterozygous mutation of ECM1 gene was identified in this LP family.

Key words: Lipoidproteinosis, Extracellular matrix proteins, Mutation