【摘要】 在新疆喀什市进行地中海贫血调查时，应用聚合酶链反应结合等位基因的特异的寡核苷酸探针杂交技术，在４例无亲缘关系的维吾尔族学生中检出β地中海贫血ＣＤ８（－ＡＡ）杂合子。这种突变型在我国人中系首次发现，而在维吾尔族中的频率较高。现报告先证者的临床血液学资料和基因分析结果，并对它的分布特点和意义进行初步讨论。更多还原

【Abstract】 During a screening survey for thalassemia Kashi city,Xinjiang province, four Uigur pupils without relatives were identified as heterozygotes forβ-thalassemia mutation at codon 8 (-AA) by using polymerase chain reaction combined with allele- specific oligonucleotide hybridization( PCR/ ARO) ; This mutation was found in Chinese population for the first time,While its mutant frequency is higher in the Uigur nationality.This paper reports the clinical hematological data of proband and the results of gene analysis, as well as a preliminary discussion on the characteristics and significance of its distribution.更多还原