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凝血因子 XIII B 亚基的遗传异质性:2 型的解析。

Genetic heterogeneity of the B subunit of coagulation factor XIII: resolution of type 2.

作者信息

Board P G

出版信息

Ann Hum Genet. 1984 Jul;48(3):223-8. doi: 10.1111/j.1469-1809.1984.tb01018.x.

Abstract

An apparent discrepancy in phenotyping the genetic polymorphism at the FXIIIB locus by electrophoresis or isoelectric focusing has been investigated. The data indicate that the product of the type 2 allele, which can be detected by agarose electrophoresis, is not resolved from the product of the type 1 allele by isoelectric focusing. The understanding of this problem has previously been confused by the absence or very low frequency of the type 2 allele in Japanese populations studied by isoelectric focusing and electrophoresis. An alternative enzyme-linked immunoblotting technique is described which substantially improves the method for phenotyping products of the FXIIIB locus after electrophoresis.

摘要

通过电泳或等电聚焦对FXIIIB基因座的遗传多态性进行表型分析时出现的一个明显差异已得到研究。数据表明,2型等位基因的产物可通过琼脂糖电泳检测到,但通过等电聚焦无法与1型等位基因的产物区分开来。此前,由于在通过等电聚焦和电泳研究的日本人群中2型等位基因缺失或频率极低,对这个问题的理解一直很混乱。本文描述了一种替代的酶联免疫印迹技术,该技术显著改进了电泳后FXIIIB基因座产物的表型分析方法。

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