Liu Y T, Old J M, Miles K, Fisher C A, Weatherall D J, Clegg J B
MRC Molecular Haematology Unit, Institute of Molecular Medicine, University of Oxford. Oxford, UK.
Br J Haematol. 2000 Feb;108(2):295-9. doi: 10.1046/j.1365-2141.2000.01870.x.
We describe a sensitive, reliable and reproducible method, based on three multiplex PCR assays, for the rapid detection of seven common alpha-thalassaemia deletions and one alpha-globin gene triplication. The new assay detects the alpha0 deletions - -SEA, - (alpha)20.5, - -MED, - -FIL and - -THAI in the first multiplex PCR, the second multiplex detects the -alpha3.7 deletion and alphaalphaalphaanti3.7 variant, the third multiplex detects the -alpha4.2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where alpha-thalassaemias are prevalent.
我们描述了一种基于三种多重PCR检测的灵敏、可靠且可重复的方法，用于快速检测七种常见的α地中海贫血缺失和一种α珠蛋白基因三倍体。在第一次多重PCR中，新检测方法可检测α0缺失——-SEA、-(α)20.5、--MED、--FIL和--THAI；第二次多重PCR检测-α3.7缺失和αααanti3.7变体；第三次多重PCR检测-α4.2缺失。这种简单的多重方法应能极大地促进α地中海贫血流行人群中这些决定因素的基因筛查和分子诊断。
