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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 ,脂蛋白脂酶基因不是影响家族性混合型高脂血症表型的遗传易感基因
Objective To investigate whether the lipoprotein lipase gene is linked to familial mixed hyperlipidemia in order to find genetic predisposition sites of familial mixed hyperlipidemia. Methods We collected 12 (81) familial mixed hyperlipidemic pedigrees from Beijing and selected the lipoprotein lipase gene and its neighboring microsatellite markers (LPLGZ1 4/1 5 and D8S2 82) for linkage analysis. Results The multi-point linkage analysis of GENEHUNTER software package showed that the maximum LODscore (HLOD) values of microsatellite markers were as follows: HLODLPLGZ1 4/1 5 = - 8 9 and HLODD8S2 82 = - 105. Conclusion Familial mixed hyperlipidemia pedigrees in Beijing, China suggest that the lipoprotein lipase gene is not a genetically susceptible gene that affects the phenotype of familial mixed hyperlipidemia