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用寡核苷酸探针检测β珠蛋白基因突变体是诊断β地贫有效的方法,但必须预先了解某一群体中最常见的β地贫基因的突变类型。为确定我国常见的β地贫基因突变类型,作者对一例来自广东地区、已克隆化分离的β基因进行了序列测定,在国内首次确定了一个β地贫基因的突变部位与性质。
Detection of β-globin gene mutants using oligonucleotide probes is an effective method of diagnosing β-thalassemia, but it is important to know in advance the type of mutation in the most common β thalassemia gene in a population. To determine the common type of thalassemia mutations in our country, we sequenced a cloned β gene from Guangdong Province and identified the first mutation site and nature of a thalassemia gene in China.