Jensen H K, Jensen L G, Hansen P S, Faergeman O, Gregersen N
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Denmark.
Clin Genet. 1996 Feb;49(2):88-90. doi: 10.1111/j.1399-0004.1996.tb04334.x.
We used polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis to detect a mutation in the low density lipoprotein receptor (LDLR) gene in a family of Iranian-Armenian origin. The mutation, designated FH Yrmeih, deletes two nucleotides from exon 10 of the LDLR gene, which causes a translational frameshift, whereby a truncated LDLR protein of the first 471 residues of the LDLR with an additional 41 abnormal residues and a premature stop codon would be created. The deletion was detected in a father and son with clinical features of heterozygous FH. To our knowledge this is the first pathogenetic LDLR mutation identified in FH patients of Iranian-Armenian ancestry.
我们采用聚合酶链反应单链构象多态性（PCR - SSCP）分析方法，对一个伊朗裔亚美尼亚家族的低密度脂蛋白受体（LDLR）基因进行突变检测。该突变被命名为FH Yrmeih，它从LDLR基因的第10外显子中缺失了两个核苷酸，这会导致翻译移码，从而产生一个截短的LDLR蛋白，该蛋白包含LDLR的前471个残基以及另外41个异常残基和一个提前终止密码子。在具有杂合子家族性高胆固醇血症（FH）临床特征的父子中检测到了该缺失突变。据我们所知，这是在伊朗裔亚美尼亚血统的FH患者中首次鉴定出的致病性LDLR突变。
