家族性高胆固醇血症患者低密度脂蛋白受体基因新的突变类型一例

目的：分析一例家庭性高胆固醇血症患的低密度脂蛋白受体基因突变位点。方法：以患儿的基因组DNA为模板，用聚合酶链反应（PCR）扩增该基因的18个外显子。用单链构象多态性（SSCP）方法分析检测PCR产物，对电泳结果异常进行DNA测序。结果：单链构象多态性分析发现患儿第10外显子存在一异常条带。DNA测序证实患儿第10外显子发生N515S纯合错义突变。结论：该病例为一个新的LDLR突变位点；聚合酶链反应－单链构象多态性分析（PCR－SSCP）可用于该突变位点的诊断。

A novel mutation in the low density lipoprotein receptor genes of familial hypercholesterolemia patient

Objective To analysis the mutation site in LDL receptor gene of a familial hypercholesterolemia(FH) patient Methods 18 exons of LDL receptor gene were amplified by PCR with genomic DNA isolated from whole blood of FH patient as templet The PCR products were analysed using PCR SSCP method and the exon showed abnormal band on PCR SSCP was underwent DNA sequencing Results A missense mutation (N515 S) was identified by PCR SSCP and DNA sequencing, which was first reported mutation in exon 10 of LDL R gene Conclusion A novel mutation in the LDL receptor genes of familial hypercholesterolemia patient was reported The PCR SSCP method was useful for identify the mutation site on LDL receptor gene of FH patients