在新疆维吾尔族中首次发现β地中海贫血CDs　8／9（＋G）基因突变

β-THALASSEMIA FRAMESHIFT AT CODONS 8/9(+G)FOUND IN CHINESE POPULATION FOR THE FIRST TIME

应用聚合酶链反应结合等位基因的寡核苷酸探针杂文技术，从新疆维吾尔族中鉴定３例基因移码突变型β地中海贫血密码子８／９（＋Ｇ）杂合子。这种突变在中国人中系首次发现，但在中亚和南亚各国中较为常见，对了解维吾尔族和新疆地中海贫血的突变基因具有重要意义。

Three unrelated students from Uygur Nationality vvere identified as heterozygotes for the β-thalassemia frameshift at codons 8/9(+G) by using polymerase chain reaction combined with allele specific oligonucleotide hybridization.β-thalassemia allele has not been observed in Chinese population before,but it is common in the middle Asia and the south Asia. The present report is of signifcance in studying the β-thalassemia in Uygur groups in Xinjang of China.