摘要
应用多聚酶链反应（ＰＣＲ）对７４例正常人及６９例内源性高甘油三酯血症（ＨＴＧ）患者载脂蛋白（ａｐｏ）ＡⅠ基因的限制性片段长度多态性（ＲｅｓｔｒｉｃｔｉｏｎＦｒａｇｍｅｎｔｓＬｅｎｇｔｈＰｏｌｙｍｏｒｐｈｉｓｍ，ＲＦＬＰ）进行了研究。检测的ａｐｏＡⅠ基因位点有：ＭｓｐⅠ（内含子３Ｃ－Ｇ突变）、ＸｍｎⅠ（５′非编码区）及ＰｓｔⅠ（３′非编码区Ｇ－Ｃ突变）。结果表明，ＨＴＧ组及对照组均以Ｍ１、Ｘ１及Ｐ１等位基因为主，大多数为Ｍ１Ｍ１、Ｘ１Ｘ１及Ｐ１Ｐ１纯和子基因型；少见的Ｍ２及Ｘ２等位基因频率显著高于欧洲白种人（０．２９３ｖｓ０．１１１，Ｐ＜０．００６及０．２８６ｖｓ０．１３０，Ｐ＜０．００４），而Ｐ２等位基因频率则未见差异（０．０７１ｖｓ０．０４６，Ｐ＞０．０５）。与对照组比较，除少见的Ｍ２等位基因频率ＨＴＧ组有增加趋势外（０．３５３ｖｓ０．２９３，Ｐ＞０．０５），其余则未见差异。在所研究的对象中，具有Ｍ２Ｍ２基因型者血清ａｐｏＣⅢ水平及ＴＧ／ＨＤＬ－Ｃ比值较Ｍ１Ｍ２及Ｍ１Ｍ１基因型者明显升高（Ｐ＜０．０３及Ｐ＜０．０４），血清ＴＧ、ＴＣ、ａｐｏＣⅡ及ａｐｏＥ水平有增加趋势。具有Ｐ１Ｐ２及Ｐ２Ｐ２基因型者，血清?
The restriction fragment length polymorphisms (RFLPs) of apolipoprotein(apo) AⅠ 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 included Msp 1 within intron 3 of the apo AⅠ gene; Xmn Ⅰ, 5′ to the apo AⅠ gene; and PstⅠ, 3′ to the apo AⅠ gene. The results showed that both in HTG group and control group M1, X1 and P1 alleles were the major alleles and homozyous M1M1, X1X1 and P1P1 genotypes were the most frequent ones. The frequencies of rare M2 and X2 alleles in Chinese were significantly higher than those in European Caucasians (0.293 vs 0.111, P <0.0006; 0.286 vs 0.130, P <0.004), but no differences were found in the frequency of rare P2 allele (0.071 vs 0.046, P >0.05). The frequency of rare M2 tended to increase in the HTG group when compared with the control group (0.353 vs 0.275, P >0.05). Both in the HTG group and control group, subjects with genotype M2M2 had a higher serum mean concentration of TC, apo CⅢ and higher serum TG/HDL C ratio compared with the subjects with the genotypes M1M1 and M1M2 ( P =0.05, P <0.03, P <0.04), and the serum TG, apo CⅡ and apo E levels had a tendency to increase. The subjects with the genotypes P1P2 and P2P2 had a higher serum apo AⅡ levels compared with the subjects with the genotype P1P1 ( P <0.04). The data show that the only MspⅠ RFLP within the intron 3 of apo AⅠ gene is associated with endogenous hypertriglyceridemia to some extent in Chinese population.
出处
《华西医科大学学报》
CSCD
1997年第3期233-238,共6页
Journal of West China University of Medical Sciences
基金
国家"八五"攻关课题
英国皇家学会科学基金
关键词
载脂蛋白
多态性
高脂血症
HTG
Endogenous hypertriglyceridemia Apolipoprotein AⅠ gene Restriction fragment length polymorphisms
