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作 者:张秋萍[1,2] 刘秉文 刘宇[1,2] 张蓉[1,2] 张荣爵 江渝[1,2] 付明德 吴兆丰[1,2] David J.Galton
机构地区:[1]华西医科大学载脂蛋白研究室 [2]英国伦敦St.Bart's医学院人类遗传及代谢学系
出 处:《中华医学遗传学杂志》1997年第5期289-293,共5页Chinese Journal of Medical Genetics
基 金:国家"八五"攻关基金;英国皇家学会科学基金
摘 要:为了解中国人内源性高甘油三酯血症患者脂蛋白脂酶及肝脂酶常见基因变异情况,应用多聚酶链反应(PCR)对成都地区69例内源性高甘油三酯血症患者(HTG)及74例正常人脂蛋白脂蛋酶(LPL)及肝脂酶(HL)基因的多态性进行了研究。检测的LPL基因突变位点有:Asp9→Asn,Asn291→Ser,Thr361→Thr,Ser447→Ter及内含子8的HindⅢ酶切位点;HL基因突点位点为Thr202→Thr。结果表明,在欧洲白种人中存在的与HTG相关联的Asp9→Asn及Asn291→Ser突变在69例HTG及74例正常中国人中1例也未发现(P<0.03);与欧洲白种人比较,LPL基因其余3个酶切位点少见等位基因频率则未见差异;而HL基因C679→G中G等位基因频率中国人显著低于欧洲白种人(0.057vs0.500,P<0.0001)。中国人HTG组与正常对照组比较,LPL基因5个突变位点及HL基因C679→G突变的少见等位基因频率均未见差异,且LPL及HL基因型亚型血脂及载脂蛋白(apo)水平均无差异。上述结果表明,中国人内源性高甘油三酯血症可能与LPL基因C1338→A,C1595→G及内含子8HindⅢ位点?To investigate the common gene variations of lipoprotein lipase (LPL) and hepatic lipase (HL) in Chinese endogenous hypertrigly ceridemics, the DNA polymorphisms of LPL and HL gene were studied using polymerase chain reaction (PCR) in 69 endogenous hypertriglyceridemics (HTG) and 74 healthy subjects from a population of Chinese Han nationality in Chengdu area. The loci studied include Asp9 Asn (exon 2, Taq 1), Asn291 Ser (exon 6, A1127 G, Rsa 1), Thr361 Thr (exon 8, C1338 A, Hae111), Ser447 Ter (exon 9, C1595 G, Mn11) and restriction site at HindⅢ(exon 8) of LPL and Thr202 Thr (exon 5, C679 G, Mspl) of HL.The results showed that both in HTG group and control group, the common alleles were the major alleles and homozygous genotypes were the most frequent one. Two hypertriglyceridemia related genetic variants (Asp9 Asn and Asn291 Ser) in European Caucasians were not found in 142 Chinese samples ( P<0.03) . No ethnic differences were found in other LPL variants, and no differences in allelic frequencies were found within trigly cerides, HDL C and apolipoproteins. The frequency of C679 G allele of HL gene in Chinese was significantly lower than that in European 5(0.057 vs 0.500, P <0.001). No differences were found in genetic variants of LPL and genetic variant of HL in HTG group when compared with the control group. These results suggest that the common genetic variants of LPL and HL related to hypertriglyceridemia in Caucasians might be not associated with endogenous hypertriglyceridemia in Chinese population.
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