用高分辨率琼脂糖凝胶电泳和异双工检测快速诊断41/42密码子4- bp缺失引起的中国人β-地中海贫血

Law H.Y., Ong J., Yoon C.S., Cheng H., Tan C.L., Ng I.
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引用次数: 3

摘要

β-珠蛋白基因41/42密码子4 bp缺失(-TTCT)是导致中国人β-地中海贫血的常见突变。一种简单的方法,涉及相关区域的PCR扩增,用于胎儿的产前诊断这种突变的风险。胎儿PCR产物在MetaPhor凝胶上显示为正常大小的单个片段。纯合的正常状态在加入纯合突变体DNA后,通过产生异双体进一步证实。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rapid Antenatal Diagnosis of β-Thalassemia in Chinese Caused by the Common 4-BP-Deletion in Codons 41/42 Using High-Resolution Agarose Gel Electrophoresis and Heteroduplex Detection

The 4-bp deletion in codons 41/42 (-TTCT) in the β-globin gene is a common mutation that causes β-thalassemia in Chinese. A simple method, which involved PCR amplification of the relevant region, was used for the antenatal diagnosis of a fetus at risk for this mutation. The fetal PCR product showed a single fragment of normal size on MetaPhor gel. The homozygous normal status was further confirmed by the generation of heteroduplexes only after addition of homozygous mutant DNA.

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