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人纤溶酶原的基因多态性

Genetic polymorphism of human plasminogen.

作者信息

Raum D, Marcus D, Alper C A

出版信息

Am J Hum Genet. 1980 Sep;32(5):681-9.

Abstract

Using isoelectric focusing (IEF) in polyacrylamide gel of neuraminidase-treated serum or plasma samples and immunofixation or caseinolytic overlay after urokinase activation of gels, a common genetic polymorphism in human plasminogen has been delineated. Two alleles PLGNA and PLGNB, were observed with gene frequencies in whites of .69 and .30; in Orientals of .96 and .03; and in blacks of .80 and .18. Several rare alleles were also found. The distribution of phenotypes fits the Hardy-Weinberg equilibrium. Inheritance is autosomal codominant and fits the expectations of Mendelian inheritance. There is fetal synthesis, but no transplacental passage of plasminogen in either direction.

摘要

通过对神经氨酸酶处理的血清或血浆样本在聚丙烯酰胺凝胶中进行等电聚焦(IEF),并在凝胶经尿激酶激活后进行免疫固定或酪蛋白溶解覆盖,已明确了人纤溶酶原中一种常见的基因多态性。观察到两个等位基因PLGNA和PLGNB,其在白人中的基因频率分别为0.69和0.30;在东方人中为0.96和0.03;在黑人中为0.80和0.18。还发现了几个罕见等位基因。表型分布符合哈迪-温伯格平衡。遗传方式为常染色体共显性,符合孟德尔遗传预期。存在胎儿合成,但纤溶酶原在两个方向上均无胎盘转运。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e74c/1686101/808b0fcbf63f/ajhg00191-0048-a.jpg

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