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圣托马斯兔一个家系中总胆固醇和甘油三酯的遗传分析。

Genetic analysis of total cholesterol and triglycerides in a pedigree of St. Thomas rabbits.

作者信息

Beaty T H, Kwiterovich P O, Laville A, Lewis B

机构信息

Department of Epidemiology, Johns Hopkins University, School of Hygiene and Public Health, Baltimore, MD 21205.

出版信息

J Lipid Res. 1989 Mar;30(3):387-94.

PMID:2723545
Abstract

A pedigree consisting of 103 New Zealand White hyperlipidemic and normal rabbits was used in a genetic analysis of total cholesterol and triglyceride levels to test for Mendelian control of hyperlipidemia. The founder male of this pedigree was identified through hypercholesterolemia and evidence suggested vertical transmission of a hypercholesterolemic phenotype in this pedigree, although a combined hyperlipidemia phenotype (elevated cholesterol and triglycerides) also occurred in many descendents of the original founders. Segregation analysis of quantitative measures of total cholesterol and triglycerides in this pedigree was employed to test hypotheses about Mendelian control in the presence of substantial inbreeding. A simple Mendelian model was the best explanation for triglycerides in these animals. This best fitting model was essentially co-dominant with genotypic specific variances, where the heterozygote was hypertriglyceridemic and the mutant homozygote showed even more extreme values. The observed distribution of total cholesterol was also compatible with a mixture of distinct genotypic distributions, but there was evidence of non-Mendelian transmission in this pedigree. The observed hypertriglyceridemia in these animals may reflect an abnormality of very low density lipoprotein metabolism described previously. Further studies will be required to elucidate the genetic control of hypercholesterolemia and the associated combined hyperlipidemia in these rabbits.

摘要

一个由103只新西兰白兔组成的家系,其中包括高脂血症兔和正常兔,用于对总胆固醇和甘油三酯水平进行遗传分析,以检测高脂血症的孟德尔遗传控制情况。该家系的奠基雄性兔是通过高胆固醇血症确定的,有证据表明该家系中高胆固醇血症表型呈垂直遗传,不过在原始奠基兔的许多后代中也出现了联合高脂血症表型(胆固醇和甘油三酯升高)。在存在大量近亲繁殖的情况下,对该家系中总胆固醇和甘油三酯的定量测量进行分离分析,以检验关于孟德尔遗传控制的假设。一个简单的孟德尔模型是这些动物甘油三酯情况的最佳解释。这个最佳拟合模型本质上是共显性的,具有基因型特异性方差,杂合子为高甘油三酯血症,突变纯合子表现出更极端的值。观察到的总胆固醇分布也与不同基因型分布的混合情况相符,但有证据表明该家系中存在非孟德尔遗传传递。这些动物中观察到的高甘油三酯血症可能反映了先前描述的极低密度脂蛋白代谢异常。需要进一步研究来阐明这些兔子中高胆固醇血症及相关联合高脂血症的遗传控制情况。

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