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载脂蛋白 B 基因多态性与蒙古布里亚特人血脂和脂蛋白水平的关系

Polymorphism of the apolipoprotein B gene and association with plasma lipid and lipoprotein levels in the Mongolian Buryat.

机构信息

Department of Legal Medicine, Showa University School of Medicine, Tokyo, Japan.

出版信息

Biochem Genet. 2012 Apr;50(3-4):249-68. doi: 10.1007/s10528-011-9468-y. Epub 2011 Sep 28.

Abstract

Allele frequencies at six RFLP sites (Ins/Del, ApaLI, AluI, XbaI, MspI, and EcoRI) of the apolipoprotein B gene (APOB) and the relationship of genotypes with plasma lipid and lipoprotein levels in the Mongolian Buryat were investigated. Common alleles at these sites in 110 Buryat subjects were I, G, A-, X-, M+, and E+; the frequencies of 0.809-0.991 differed strikingly from those of a few Asians and most Europeans. Five unambiguous haplotypes of all sites were revealed at 74%; haplotype IGA-X-M+E+ (000000) was the most frequent (67%), followed by IGA+X-M+E+ (001000) (19%). The frequency constitution differed significantly from the Chinese, Malaysians, and Caucasians but resembled the Indians. No APOB polymorphisms were associated with cholesterol levels (total, HDL and LDL). Significant associations of genotypes were shown with the triglyceride level only at the AluI and XbaI sites. The lipid level of A-A+ females or X-X+ males was higher than that of A-A- females or X-X- males, respectively.

摘要

研究了蒙古布里亚特人载脂蛋白 B 基因(APOB)的六个 RFLP 位点(Ins/Del、ApaLI、AluI、XbaI、MspI 和 EcoRI)的等位基因频率,以及基因型与血浆脂质和脂蛋白水平的关系。在 110 名布里亚特人受试者中,这些位点的常见等位基因是 I、G、A-、X-、M+和 E+;频率在 0.809-0.991 之间,与少数亚洲人和大多数欧洲人明显不同。在 74%的受试者中揭示了所有位点的 5 种明确的单倍型;最常见的单倍型是 IGA-X-M+E+(000000)(67%),其次是 IGA+X-M+E+(001000)(19%)。其频率构成与中国人、马来西亚人和高加索人有显著差异,但与印度人相似。APOB 多态性与胆固醇水平(总胆固醇、高密度脂蛋白胆固醇和低密度脂蛋白胆固醇)无关。仅在 AluI 和 XbaI 位点,基因型与甘油三酯水平存在显著关联。A-A+女性或 X-X+男性的血脂水平高于 A-A-女性或 X-X-男性。

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