Prenatal diagnosis of alpha-thalassaemia by analysis of enzymatically amplified DNA sequences.

J A Tan, S H Tay, K Alain, H B Wong, P S Lai
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Abstract

A new method using enzymatically amplified DNA sequences for the prenatal diagnosis of alpha-thalassaemia was evaluated. DNA from a foetus at risk for alpha(0)-thalassaemia was analysed to detect the presence of alpha-globin genes. The procedure involved amplification of a 136-base-pair (bp) region of the alpha-globin gene complex between the psi alpha and alpha 2 region. Amplification was performed using a pair of oligonucleotide primers and a heat stable DNA polymerase which allowed repeated cycles of DNA synthesis at 72 degrees C. A 136 bp product was detected by gel electrophoresis indicating the foetus was not positive for Bart's hydrops foetalis. The result was confirmed using the gene mapping technique. Prenatal diagnosis of alpha-thalassaemia by DNA amplification offers two advantages over the gene mapping technique since radionucleotides are not used and results can be obtained in 3 days.

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酶扩增DNA序列分析对α -地中海贫血的产前诊断。
研究了酶扩增DNA序列用于α -地中海贫血产前诊断的新方法。研究人员分析了一个有α(0)-地中海贫血风险的胎儿的DNA,以检测α -珠蛋白基因的存在。该过程涉及扩增α -珠蛋白基因复合体在psi α和α 2区域之间的136碱基对(bp)区域。使用一对寡核苷酸引物和热稳定的DNA聚合酶进行扩增,该酶允许在72℃下重复DNA合成循环。凝胶电泳检测到136 bp的产物,表明胎儿对巴特氏积水胎儿没有阳性反应。利用基因定位技术证实了这一结果。与基因定位技术相比,通过DNA扩增进行α -地中海贫血的产前诊断有两个优点,因为不使用放射性核苷酸,并且可以在3天内获得结果。
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