两个家族性高胆固醇血症纯合子家系低密度脂蛋白受体基因分析  

A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia

作　　者：王冬青[1] 李燕[1] 穆莹 高庆[1] 衡万杰[1] 钟镐镐[1] 王家锦 

机构地区：[1]北京大学医学部病理教研室,100083 [2]北京大学医学部人民医院遗传科,100083

出　　处：《中华医学遗传学杂志》2001年第4期279-282,共4页Chinese Journal of Medical Genetics

基　　金："九五"国家医学科技攻关基金项目 (960 4 1 1 4 37)&&

摘　　要：目的　分析家族性高胆固醇血症 (familial hypercholesterolemia,FH)低密度脂蛋白受体(low density lipoprotein receptor,L DL R)的基因突变。方法　提取 5个彼此无亲缘关系临床诊断为 FH的纯合子患儿及其家系成员的基因组 DNA,用聚合酶链反应 -单链构象多态性分析方法 ,对 L DL R基因的启动子和全部 18个外显子进行突变检测 ,并对结果异常者进行 DNA测序。结果　在两个家系分别发现A6 0 6 T和 C2 6 3R两种突变。结论　L DL R基因在以上两位点的突变可引起 FH,中国 FH患者的 L DLObjective: To investigate low density lipoprotein receptor (LDLR) gene mutations in Chinese with familial hypercholesterolemia (FH). Methods Genomic DNA was extracted from five unrelated children with clinical diagnosis of homozygous FH, together with their family members. Promoter and all of the 18 exons of LDLR gene were amplified by polymerase chain reaction (PCR) and were analyzed by single strand conformation polymorphism (SSCP). The PCR products of abnormal patterns shown by SSCP were sequenced directly. Results: Two point mutations (A606T, C263R) were found in two families respectively. The two mutations were only found in China, and C263R is a novel mutation. Conclusion: The two mutations of LDLR gene are the cause of FH and there may be LDLR gene mutations only carried by FH patients in China.

关 键 词：家族性高胆固醇血症 低密度脂蛋白受体 聚合酶链反应-单链构象多态性 基因突变 

分 类 号：R596[医药卫生—内科学]