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我们在调查广西的β地中海贫血的基因类型过程中，用聚合酶链反应（ＰＣＲ）及ＰＣＲ的产物直接测定ＤＮＡ序列方法，发现一种新的β地中海贫血基因。这种新的β地中海贫血基因是由于β珠蛋白基因的第２内含子第５个碱基（ＩＶＳ－ＩＬ－５）的Ｇ→Ｃ而形成。这种突变在国际上尚未见报道。
In our investigation of the genetic type of β-thalassemia in Guangxi, we used DNA polymerase chain reaction (PCR) and PCR products to directly determine the DNA sequence and found a novel β-thalassemia gene. This new β-thalassemia gene is formed by G → C of the fifth base (IVS-IL-5) of the second intron of the β-globin gene. This mutation has not been reported in the world.