类脂质蛋白沉积症两家系调查及ECM1基因突变检测

目的:检测类脂质蛋白沉积症二家系中细胞外基质蛋白(ECM1)基因突变位点。方法:提取1号家系先证者及其母亲,2号家系先证者、父母、配偶及儿子外周血DNA。PCR技术扩增ECM1基因编码序列,采用一代Sanger法对PCR扩增产物进行测序。结果:1号家系先证者在7号外显子发现已知突变(纯合突变c.960GA),其母亲为杂合携带者;2号家系先证者为遗传复合体,是上述突变位点的杂合携带者,此外在3号外显子上存在1个插入突变c.142insC。结论:类脂质蛋白沉积症存在遗传异质性。

Mutation analysis of ECM1 gene in two families with lipoid proteinosis

Objective:To detect the mutations in the extracellular matrix protein 1 (ECM1) gene in two families with lipoid proteinosis (LP).Methods:Genomic DNA was extracted from peripheral blood of the propositus and the mother in family one and of the propositus,wife,parents and son in family two.The family numbers were all normal except propositus in two families.All the exons of ECM1 were amplified by PCR and the products were purified and directly sequenced to detect mutations by Sanger sequencing.Results:A homozygotic mutation of c.960G>A in exon 7 in the propositus and the heterozygous mutation of c.960G>A in the mather of family 1 was identified.One insertion mutation of c.142insC in exon 3 in the propositus and the heterozygous mutation of c.960G>A in the propositus of family 2 were identified.Conclusion:There exist genetic heterogenicity of LP.