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[采用含内部切割对照的聚合酶链反应(PCR)方法检测多态性Bcl I和HINDIII位点以筛查甲型血友病携带者]

[Detection of hemophilia A carriers by testing polymorphic Bcl I and HINDIII sites using the PCR method with internal splitting control].

作者信息

Surin V L, Zhukova E L, Krutov A A, Solov'ev G Ia, Likhacheva E A, Pliushch O P, Grineva N I

出版信息

Gematol Transfuziol. 1990 Mar;35(3):3-6.

PMID:1972928
Abstract

A new variant of the PCR test system is discussed which allows one to detect Bcl I and Hind III polymorphic sites of FVIII gene. It can be used for rapid and effective diagnosis of hemophilia A, especially, in combination with the blot-hybridization technique that detects other polymorphic variants of FVIII gene. The method proposed is highly accurate, reliable and simple. It allows one to analyze submicrogram quantities of DNA without using radiolabeled probes. The whole procedure takes several hours. The variant discussed can, possibly, be the part of the general scheme of hemophilia diagnosis completely based on the effective PCR test.

摘要

讨论了一种聚合酶链式反应(PCR)测试系统的新变体,它能够检测凝血因子VIII(FVIII)基因的Bcl I和Hind III多态性位点。该系统可用于甲型血友病的快速有效诊断,特别是与检测FVIII基因其他多态性变体的印迹杂交技术联合使用时。所提出的方法高度准确、可靠且简单。它无需使用放射性标记探针就能分析亚微克量的DNA。整个过程耗时数小时。所讨论的这种变体可能会成为完全基于有效PCR测试的血友病诊断总体方案的一部分。

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