通过聚合酶链反应检测印度东部人群中的β-地中海贫血突变

Detection of beta-thalassaemia mutations in eastern Indian population by polymerase chain reaction.

作者信息

Ghosh Dastidar D, Dutta R N, Gupta P, Old J M

机构信息

Department of Pathology & Haematology, Assembly of God Hospital & Research Centre, Calcutta.

出版信息

Indian J Med Res. 1994 Sep;100:111-4.

Abstract

We report here the application of a non-radioactive amplification refractory mutation system (ARMS) for the direct detection of beta-thalassaemia using polymerase chain reaction. Seven beta-thalassaemia mutations accounting for 89 per cent (71 of 80) of the alleles in eastern Indian population have been identified and majority (67.5%) were due to IVS-1 nt 5 (G-C) mutation. Interestingly, 9 cases did not reveal any of the 17 common mutations reported so far from Indian population.

摘要

我们在此报告一种非放射性扩增不应性突变系统（ARMS）在利用聚合酶链反应直接检测β地中海贫血中的应用。已鉴定出占印度东部人群等位基因89%（80个中的71个）的7种β地中海贫血突变，其中大多数（67.5%）是由于IVS-1 nt 5（G-C）突变。有趣的是，有9例未显示出印度人群迄今报告的17种常见突变中的任何一种。

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