家族性脂蛋白脂酶缺乏症的基因分析  

A gene analysis of familial lipoprotein lipase deficiency in China

作　　者：申景平[1,2] 陈融[1,2] 胡维诚[1,2] 克丙申[1,2] 李莉[1,2] 杜艳芝[1,2] 刘玉梅[1,2] 

机构地区：[1]山东医科大学病理生理学教研室 [2]济南军区总医院免疫科

出　　处：《中华医学遗传学杂志》1999年第4期233-235,共3页Chinese Journal of Medical Genetics

摘　　要：目的分析中国家族性脂蛋白脂酶（ｌｉｐｏｐｒｏｔｅｉｎｌｉｐａｓｅ，ＬＰＬ）缺乏症的基因突变。方法以基因组ＤＮＡ为模板，借助聚合酶链反应扩增产物，用双脱氧末端终止法，对患者ＬＰＬ的ＤＮＡ序列进行检测。结果对ＬＰＬ基因的９个外显子测序，发现在第６外显子中一碱基发生错义突变，即６Ｇ９７９→Ａ（Ｇｌｕ２４２→Ｌｙｓ），这是一杂合子的等位基因突变。结论ＬＰＬ基因在该位置的突变可能是导致患者ＬＰＬ活性显著降低和血清甘油三酯增高的原因。该位点的基因突变系首次报道。同时也为研究动脉粥样硬化和高脂血症等多种代谢疾病的发病机理提供了重要证据。Objective To investigate the gene mutation of lipoprotein lipase (LPL) of familial LPL deficiency in China. Methods The DNA sequencing of LPL gene of the patients was performed with the dideoxy method based on the polymerase chain reaction amplification using the genomic DNA as a template. Results It was identified that a missense mutation in exon 6 of LPL gene(6G979A) resulted in the substitution of Glu242 by Lys in a heterozygous state. Conclusion The missense mutation of LPL may play a key role in the decrease of LPL activity. This is the first report about the gene mutation of LPL at this site in familial LPL deficiency. Moreover, it contributes to the elucidation of the pathophysiological mechanisms of atherosclerosis and some metabolic diseases.

关 键 词：家族性 脂蛋白脂酶缺乏 聚合酶链反应 基因突变 

分 类 号：R596.02[医药卫生—内科学]