Thein S L, Weatherall D J
MRC Molecular Haematology Unit, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
Acta Haematol. 1987;78(2-3):159-67. doi: 10.1159/000205868.
Over the last few years, the new techniques of DNA analysis have enabled efficient strategies for the detection and characterisation of the different mutations causing beta-thalassaemia of which a total of 41 have now been characterised. Since the majority of the beta-thalassaemia molecular defects are of the non-deletion type and not directly detectable by Southern blotting, a comprehensive approach to the identification of these mutations entails the use of several different techniques, including direct identification by restriction enzyme analysis and synthetic oligonucleotide probes, indirect identification by linkage analysis to restriction fragment length polymorphisms and globin chain synthesis analysis. As the majority of beta-thalassaemia in each population is accounted for by a few mutants, it should be possible to work out a combination of techniques to directly detect the majority of beta-thalassaemia in a defined population.
在过去几年中，DNA分析新技术已促成了高效策略，用于检测和鉴定导致β地中海贫血的不同突变，目前已鉴定出总共41种此类突变。由于大多数β地中海贫血分子缺陷属于非缺失型，无法通过Southern印迹法直接检测，因此鉴定这些突变的综合方法需要使用几种不同技术，包括通过限制性酶切分析和合成寡核苷酸探针进行直接鉴定、通过与限制性片段长度多态性的连锁分析进行间接鉴定以及珠蛋白链合成分析。由于每个群体中的大多数β地中海贫血是由少数突变体引起的，因此应该有可能制定出一套技术组合，以直接检测特定人群中的大多数β地中海贫血。
