Xiao W, Xu X, Liu Z
Institute of Molecular Biology, First Military Medical University, Guangzhou 510515, China.
Zhonghua Xue Ye Xue Za Zhi. 2000 Apr;21(4):192-4.
To establish a rapid and simple polymerase chain reaction (PCR) method for detecting alpha-thalassemia of Southeast Asia deletion, and apply it to the prenatal diagnosis for high risk fetuses.
Two pairs of primers were designed: one pair bridging the breakpoints to identify the specific deletion, the other located in the common deletion region of --(SEA), -alpha(3.7) and -alpha(4.2) gene to detect the normal chromosomes. In this system, the two amplifications ran in the same PCR tube under identical condition.
A 740 bp fragment was amplified in chromosomes with --(SEA) determinant and a 1,052 bp fragment in normal chromosomes. For prenatal diagnosis, 3 of 8 at-risk cases were diagnosed as normal, 3 as heterozygotes, and 2 as homozygotes of --(SEA) deletion.
This detection method is rapid and accurate and can be used as a routine method for carrier detection and prenatal diagnosis.
建立一种快速简便的聚合酶链反应（PCR）方法检测东南亚缺失型α地中海贫血，并将其应用于高危胎儿的产前诊断。
设计两对引物：一对跨越断点以鉴定特异性缺失，另一对位于--(SEA)、-α(3.7)和-α(4.2)基因的常见缺失区域以检测正常染色体。在该体系中，两次扩增在同一PCR管中相同条件下进行。
具有--(SEA)决定簇的染色体扩增出740 bp片段，正常染色体扩增出1,052 bp片段。用于产前诊断时，8例高危病例中3例诊断为正常，3例为杂合子，2例为--(SEA)缺失纯合子。
该检测方法快速准确，可作为携带者检测和产前诊断的常规方法。
