基因芯片用于检测β地中海贫血

Detection of β-thalassemia by DNA microarray

目的探讨基因芯片诊断β地中海贫血的方法。方法抽提样品基因组DNA,经聚合酶链反应后,进行荧光标记及杂交,扫描芯片荧光信号图像,将分析的结果与原基因类型进行对照。结果在40例被检样品中,正常个体4例,β地贫杂合子29例,双重杂合子或纯合子7例。结论基因芯片法能同时快速、准确地筛查多种β地中海贫血。

Objective To explore the techniques for genetic diagnosis of β-thalassemia using DNA microarray. Methods The assay was used to test a total of 40 blood archival samples. The genotypes had been determined previously. The genomic DNA was isolated from the blood. Sample DNA was amplified by the polymerase chain reaction (PCR), while a fluorescent label was incooperated and used as the probe for hybridization. Followed by scanned for the fluorescent signals showed on DNA microarray. The genotypes were scored before checking against the previously determined results. Results The diagnosis was definitely made in 40 samples, including 4 normal cases, 29 heterozygotes, 7 compound heterozygotes or homozygotes. The results were identical to that from previously determined genotypes. Conclusions DNA microarray technique is rapid and effective in screening the β-thalassemia.