Dodé C, Krishnamoorthy R, Lamb J, Rochette J
ICGM INSERM U 129, CHU Cochin, Paris, France.
Br J Haematol. 1993 Jan;83(1):105-11. doi: 10.1111/j.1365-2141.1993.tb04639.x.
In this report we describe a PCR-based method for the diagnosis of the most common form of alpha thalassaemia, the -alpha 3.7 deletion which occurs throughout all tropical and subtropical regions of the world. The same procedure also identifies the reciprocal recombinant chromosome (alpha alpha alpha anti 3.7). Restriction mapping of the PCR products has enabled us to distinguish between the type I (-alpha 3.7 I), type II (-alpha 3.7 II) and type III (-alpha 3.7 III) deletions. This strategy will be very useful in screening programmes of alpha thalassaemia occurring on its own or in association with beta thalassaemia and sickle cell disease.
在本报告中，我们描述了一种基于聚合酶链反应（PCR）的方法，用于诊断最常见的α地中海贫血形式，即 -α3.7 缺失，这种缺失在世界所有热带和亚热带地区都有发生。同样的程序还能鉴定出相互重组的染色体（ααα抗 3.7）。对 PCR 产物进行限制性酶切图谱分析，使我们能够区分 I 型（-α3.7 I）、II 型（-α3.7 II）和 III 型（-α3.7 III）缺失。该策略在单独发生或与β地中海贫血及镰状细胞病相关的α地中海贫血筛查项目中将非常有用。
