Identification of LDL receptor gene marker associated with altered levels of LDL cholesterol and apolipoprotein B in baboons.

Identification of LDL receptor gene marker associated with altered levels of LDL cholesterol and apolipoprotein B in baboons.
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鉴定与狒狒中 LDL 胆固醇和载脂蛋白 B 水平改变相关的 LDL 受体基因标记。

DOI:
10.1161/01.atv.9.6.829
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发表时间:
1989
期刊:
Arteriosclerosis (Dallas, Tex.)
影响因子:
--
通讯作者:
Mott,GE
Mott,GE
中科院分区:
--
文献类型:
--
作者:
Hixson,JE;Kammerer,CM;Cox,LA;Mott,GE

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我们正在通过鉴定影响狒狒血浆脂质、脂蛋白和载脂蛋白浓度正常变化的基因来研究常见心脏病的遗传因素。在这些研究中,我们使用克隆的人类基因探针来鉴定编码胆固醇代谢蛋白的基因座的限制性片段长度多态性(RFLP)。在这份报告中,我们提出了一个多态性Ava II切割位点的狒狒低密度脂蛋白(LDL)受体基因的内含子17的识别和映射。我们确定了253只纯种狒狒的RFLP基因型,并评估了LDL受体RFLP基因型对LDL胆固醇(LDL-C)和载脂蛋白B(apo B)血清浓度的影响。这些措施获得了每只狒狒的两种饮食:低胆固醇,低脂肪(基础)饮食和高胆固醇,高饱和脂肪(动脉粥样硬化)饮食。统计学分析发现两种饮食中LDL受体基因型与血清LDL-C和apo B浓度之间存在显著相关性。与常见等位基因的纯合子相比,罕见等位基因的纯合子具有较低的LDL-C和apo B血清浓度,并且除了基础饮食上的apo B水平外,在杂合子中观察到中间水平。LDL受体RFLP约占两种饲料中血清LDL-C和apo B浓度变化的3%至7%。
We are studying the genetic factors underlying the common forms of heart disease by identifying genes that affect normal variations in plasma lipid, lipoprotein, and apolipoprotein concentrations in baboons. For these studies we are using cloned human gene probes to identify restriction fragment length polymorphisms (RFLPs) at loci encoding the proteins of cholesterol metabolism. In this report we present the identification and mapping of a polymorphic Ava II cleavage site in intron 17 of the baboon low density lipoprotein (LDL) receptor gene. We determined genotypes for this RFLP on a population of 253 pedigreed baboons and assessed the effect of LDL receptor RFLP genotypes on serum concentrations of LDL cholesterol (LDL-C) and apolipoprotein B (apo B). These measures were obtained for each baboon on each of two diets: a low cholesterol, low fat (basal) diet and a high cholesterol, high saturated fat (atherogenic) diet. Statistical analysis detected a significant association between LDL receptor genotype and serum LDL-C and apo B concentrations on both diets. Homozygotes for the rarer allele had lower serum concentrations of LDL-C and apo B than did homozygotes for the common allele, and with the exception of apo B levels on the basal diet, intermediate levels were observed in heterozygotes. The LDL receptor RFLP accounted for approximately 3% to 7% of the variation in serum LDL-C and apo B concentrations on both diets.
低密度脂蛋白(LDL)受体基因的常见DNA多态性及其在诊断中的应用
DOI: --
发表时间: 1985
期刊: The Lancet
影响因子: --
作者:
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期刊: Atherosclerosis
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发表时间: 1974-01-01
影响因子: 6.8
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DOI: --
发表时间: 1988
影响因子: 9.8
作者:
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通讯作者: McGillJr,HC