Zhong M, Jin Z, Xu X
Nanfang Hospital, First Military Medical University, Guangzhou.
Zhonghua Fu Chan Ke Za Zhi. 1995 Oct;30(10):597-9.
To study the gene of deletional alpha-thalassemia of the Southeast Asian type (SEA) and to perform the antenatal diagnosis.
A new method of polymerase chain reaction technique using three primers bridging the breakpoints was carried out for carrier detection and antenatal diagnosis of deletional alpha-thalassemia of the Southeast Asian type. A DNA fragment of about 630bp in size was amplified in case of--SEA alleles, while a 224 bp fragment was amplified in samples without the deletion. Homozygotes, heterozygotes, and normal subjects could be clearly distinguished with the present method.
We used this method in the genotyping and antenatal diagnosis of 10 high risk pregnancies of alpha-thalassemia. 2 homozygotes, 4 heterozygotes, and 4 normal infants were found.
The present method is simple and rapid in detection of carriers and antenatal diagnosis of the alpha-thalassemia of southeast Asian type.
研究东南亚型缺失型α地中海贫血（SEA）基因并进行产前诊断。
采用一种新的聚合酶链反应技术方法，使用跨越断点的三条引物对东南亚型缺失型α地中海贫血进行携带者检测和产前诊断。在存在--SEA等位基因的情况下，可扩增出大小约为630bp的DNA片段，而在无缺失的样本中可扩增出224bp的片段。用本方法可清晰区分纯合子、杂合子和正常个体。
我们将此方法用于10例α地中海贫血高危妊娠的基因分型和产前诊断。发现2例纯合子、4例杂合子和4例正常婴儿。
本方法在检测东南亚型α地中海贫血携带者及产前诊断方面简便、快速。
