类脂质蛋白沉积症一家系的基因突变检测

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。

ECMI Gene Mutations in a Family with Lipoid Proteinosis

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.