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前β-脂蛋白沉降的遗传及其与Lp(a)抗原的关系。

The inheritance of sinking-pre-beta lipoprotein and its relation to the Lp(a) antigen.

作者信息

Hewitt D, Milner J, Owen A R, Breckenridge W C, Maguire G F, Jones G J, Little J A

出版信息

Clin Genet. 1982 May;21(5):301-8.

PMID:6889478
Abstract

We have investigated the genetics of plasma sinking-pre-beta lipoprotein (sp beta) as determined by the method of Breckenridge and Maguire, using several approaches: (i) a population study, (ii) a twin study and (iii) the use of family data. In addition, by the use of split samples, the sp beta level as determined by us was correlated with Lp(a) typing carried out in Oslo by Dr. Kåre Berg. Although the sp beta level is a continuous character, the results clearly showed it to be to a considerable extent under the control of the major autosomal gene pair constituted by the alleles Lpa and Lp, which mainly control the production of the Lp(a) antigen, Lpa being dominant. In our data the boundary between the LpLp and LpaLp genotypes appeared to fall between the sp beta 2 and 3 mg% levels, while that between LpaLp and LpaLpa was in the 15 mg% region. These boundaries, which were inferred from both typing and population statistics, received good confirmation from the family data. It appears that some 88% of the variation in sp beta level is directly ascribed to segregation of Lpa and Lp. On the basis of the twin study and other data, we conclude that the residual observed variation in sp beta is almost entirely ascribed to analytical error of determination and polygenic effects, the influence of environment being negligible. The heritability is close to 100%.

摘要

我们采用了几种方法,通过布雷肯里奇和马奎尔的方法研究了血浆下沉前β脂蛋白(spβ)的遗传学:(i)群体研究,(ii)双胞胎研究,以及(iii)家族数据的使用。此外,通过使用分割样本,我们测定的spβ水平与奥斯陆的卡尔·伯格博士进行的Lp(a)分型相关。尽管spβ水平是一个连续性状,但结果清楚地表明,它在很大程度上受主要常染色体基因对Lpa和Lp等位基因的控制,这两个等位基因主要控制Lp(a)抗原的产生,Lpa为显性。在我们的数据中,LpLp和LpaLp基因型之间的界限似乎落在spβ 2至3mg%水平之间,而LpaLp和LpaLpa之间的界限在15mg%区域。这些从分型和群体统计中推断出的界限,得到了家族数据的良好证实。似乎spβ水平约88%的变异直接归因于Lpa和Lp的分离。基于双胞胎研究和其他数据,我们得出结论,spβ中观察到的剩余变异几乎完全归因于测定的分析误差和多基因效应,环境的影响可以忽略不计。遗传率接近100%。

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