家族性混合型高脂血症与脂蛋白脂酶基因的连锁分析  

Linkage analysis between familial combined hyperlipidemia and lipoprotein lipase gene in Chinese families

作　　者：裴卫东[1] 李丽[1] 宋雷[1] 荆志成[1] 张健[1] 郑维越[1] 滕思勇[1] 陆立鹤[1] 蔡明清[1] 陈敬洲[1] 刘力生[1] 惠汝太 徐荣[2] 赵晓雯[3] 

机构地区：[1]北京中国医学科学院中国协和医科大学阜外心血管病医院,100037 [2]青岛市立医院干部病房科 [3]山西省临汾市人民医院神经内科

出　　处：《中华心血管病杂志》2002年第1期34-36,共3页Chinese Journal of Cardiology

基　　金：国家自然科学基金 (No 39870 2 8);国家教委博士点基金 ( 1998年 )资助

摘　　要：目的　探讨脂蛋白脂酶基因与家族性混合型高脂血症是否连锁 ,以期发现家族性混合型高脂血症遗传易感位点。方法　从北京地区搜集 1 2个 (81人 )家族性混合型高脂血症家系选择脂蛋白脂酶基因及其附近的微卫星遗传标记 (LPLGZ1 4/1 5与D8S2 82 )进行连锁分析。结果　GENEHUNTER软件包多点连锁分析显示微卫星遗传标记最大LODscore(HLOD)值如下 :HLODLPLGZ1 4/1 5=- 8 9及HLODD8S2 82 =- 1 0 5。结论　中国北京地区家族性混合型高脂血症家系提示 。Objective To examine familial combined hyperlipidemia(FCHL)families from Chinese population to see if we could identify a FCHL locus from lipoprotein lipase gene Methods We recruited 12 families with a total of 81 members in China The microsatellite markers (LPL GZ14/15 and D8S282) were examined by multipoint linkage analysis with a GENEHUNTER program Results Multipoint linkage analysis allowing for heterogeneity gave a maximum LOD score (HLOD) of 8 9 right over LPL GZ14/15 ,as well as D8S282 for 10 5 Conclusion In the light of the relatively small numbers and the heterogeneity from our studied population, it is suggested that LPL gene does not represent as a major locus influencing the expression of the FCHL phenotype

关 键 词：家族性混合性高脂血症 脂蛋白脂酶基因 遗传易感基因 连锁分析 脂质代谢异常 

分 类 号：R589.2[医药卫生—内分泌]