Detection and molecular analysis of alpha and beta thalassaemia genes--recent developments in screening protocols.

J Tan, J S Tay, H B Wong
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Abstract

Molecular and non-molecular techniques have been utilized for the detection and characterisation of alpha- and beta-thalassaemia genes. Non-molecular techniques example, haematological indices and haemoglobin electrophoresis allow samples to be screened rapidly without the use of radionuclides but these techniques are unable to detect mutations at the gene level. Molecular analysis of alpha- and beta-globin genes either by Southern Blotting and radionuclides or DNA amplification using the polymerase chain reaction (PCR) allows detection of specific mutations and have enabled prenatal diagnosis of the thalassaemias.

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α和β地中海贫血基因的检测和分子分析——筛查方案的最新进展。
分子和非分子技术已被用于检测和表征α -和β -地中海贫血基因。非分子技术,例如血液学指数和血红蛋白电泳,可以在不使用放射性核素的情况下快速筛选样品,但这些技术无法在基因水平上检测突变。通过Southern Blotting和放射性核素或使用聚合酶链反应(PCR)的DNA扩增对α -珠蛋白和β -珠蛋白基因进行分子分析,可以检测特定的突变,并使产前诊断地中海贫血成为可能。
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