高胆固醇血症患者筛查出家族性载脂蛋白B-100缺陷症  

Screening for familial defective apolipoprotein B-100 in hyperlipidemic Chinese: Identification of a case of R 3500W mutation

作　　者：冯建生[1] 周羽竝[1] 俞锐敏[2] 林春兰[1] 

机构地区：[1]暨南大学医学院生化教研室,广州 510632 [2]暨南大学医学院第一附属医院

出　　处：《中华心血管病杂志》2000年第6期449-451,共3页Chinese Journal of Cardiology

基　　金：国家自然科学基金资助项目(编号:39570391)

摘　　要：目的　筛查高胆固醇血症患者载脂蛋白 (apo)B 10 0可能存在的突变体。方法　以聚合酶链反应结合单链构象多态性分析筛查受检者apoB基因 35 0 0密码子附近一段DNA是否存在突变 ,对产生异常图谱的DNA片段进行测序。先证者的基因型以apoB基因的三个多态点定出。结果　在36 2例高胆固醇血症患者中 ,发现 1例R35 0 0W先证者 ,基因型为XbaⅠ ,MspⅠ + + ,EcoRⅠ + +。结论　广州人群存在apoB 10 0R35 0 0W突变携带者 ,与携带同一突变的台湾及海外华人可能来自同一远祖。Objective To screen apolipoprotein B 100 mutations in hyperlipidemic Chinese. Methods A DNA segment of 345bp surrounding codon 3500 of apoB gene was amplified by PCR and the products were analysed by single strand conformation polymorphism (SSCP). One PCR sample with abnormal SSCP figure was cloned in plasmid pUC18 and sequenced. Genotype was analysed by three restriction enzyme polymorphic site of apoB gene. Results DNA from 362 hyperlipidemic individuals was studied, one case with C to T substitution in cDNA 10 707 nucleotide was identified, which leads to R 3500W mutation in mature apoB 100. The pedigree′s genotype is Xba1-/-, Msp 1+/+, EcoR 1+/+. Conclusions This is the first case of FDB R 3500W reported in mainland,China. The unambiguous haplotype suggests that this mutation has the same origin as the R 3500W mutation found among Chinese in Taiwan and overseas.

关 键 词：高胆固醇血症 载脂蛋白B 遗传性疾病 FDB 

分 类 号：R589.2[医药卫生—内分泌] R596[医药卫生—内科学]