【作者】 石秀艳；

【导师】 马东来；

【作者基本信息】 北京协和医学院 ， 皮肤病与性病学， 2011， 硕士

【摘要】 目的：研究类脂蛋白沉积症一家系细胞外基质蛋白1(ECM1)的基因突变。方法：采用PCR扩增目的基因,DNA双向测序法直接检测类脂蛋白沉积症一家系的ECM1基因,并用DNA克隆测序法进行验证。结果：先证者、其弟弟和母亲均为杂合子,在1474位插入了一个碱基T,形成了移码突变,使终止密码子提前出现,父亲正常。在50个正常汉族人的ECM1基因上未发现此改变。结论：本家系类脂蛋白沉积症存在新的突变位点,其遗传方式不符合经典的常染色体隐性遗传。更多还原

【Abstract】 Mutation analysis of the ECM1 gene in a Chinese family with lipoid proteinosisObjective:A Chinese family with lipoid proteinosis is reported and extracellular matrix protein 1 (ECM1) was identified.Methods:Polymerase chain reaction (PCR),DNA direct nucleotide squencing and Clone squencing were used in mutation analysis.Results:Affected siblings and his mother were revealed to have a heterozygosis frameshift mutation,1473insT, in exon 10, which led to a premature stop codon downstream, which was not detected in 50 unrelated healthy controls.Conclusion:The frameshift mutation is the underlying cause of lipoid proteinosis in this family, which is not due to common polymorphism.更多还原