【摘要】 目的　探讨基因芯片用于地中海贫血 (简称地贫 )检测的应用价值。方法　应用基因芯片技术对 6 2例初筛诊断为α地贫 ;93例初筛诊断为β地贫 (轻型 6 0例 ,重型 33例 )的患儿血样标本进行α及β珠蛋白的基因分析。 结果　 (1)成功检测出中国人中常见的 3种缺失型α地贫 ( SEA, α3 7, α4 2 ) ,2种非缺失型α地贫 (HbCS ,HbQS )的杂合子、纯合子及双重杂合子。 (2 )在 6 0例轻型 β地贫 ,33例重型 β地贫 12 6条染色体中共检测到 8种突变类型 ,其中CD4 1 4 2占 33 5 % ,IVS Ⅱ 6 5 4占2 3 9% ,TATAbox 2 8占 15 0 % ,CD17占 15 0 % ,CD71 CD72 (+A )占 4 8% ,βE2 6占 2 4 % ,CD2 7 CD2 8(+C )占 2 4 % ,CD71 CD72 (+T)占 1 5 %。 (3)在 6 0例β地贫杂合子中检测到 8例 (13 3% ) ,在 33例重型 β地贫中检测到 2例 (6 % )同时复合有α地贫基因。结论　基因芯片技术具有简便、省时等特点 ,其无需接触放射性同位素 ,可同时检测α与 β地贫 ,便于推广应用。更多还原

【Abstract】 Objective The new technology of genechip is exerting a significant impact on the identification of thalassemia, and allows to rapidly and efficiently detect a number of molecular disorders The aim of the present study was to explore the application value of the diagnostic genechip in determining thalassemia Methods The subjects group consisted of 62 children with α thalassemia and 93 children with β thalassemia (60 with thalassemia trait, 33 with thalassemia major) from Guangdong province were tested from July 2002 to July 2003; 115 were males and 40 were females, the age ranged from 1 day to 11 years These children had mild, moderate or severe anemia Laboratory examinations showed microcytosis and hypochromocytosis DNA was extracted from ACD coagulated blood with Invisorb DNA extraction kit After preparation, the α and β globin gene organization and structure of sample was analyzed by genechip technology Results (1) Heterozygotes, homozygotes and compound heterozygotes of the three commmonenst deletional α thalassemia ( SEA , α 3 7 , α 4 2 ) and two nondeletional α thalassemia ( HbCS, HbQS ) were successfhlly detected (2) Eight different mutations were identified in 126 chromosomes among 60 cases with β thalassemia traits and 33 cases with β thalassemia major, namely CD41 42, IVS II 654, TATAbox 28, CD17, CD71 72 (+ A ), βE 26 CD27 28 (+C ) and CD71 72 (+ T ), with the frequencies of 33 5 %, 23 9 %, 15 0 %, 15 0 %, 4 8 %, 2 4 %, 2 4 % and 1 5 % respectively (3) Eight cases (13 3 %) in 60 thalassemia traits, two cases (6%) 33 cases with thalassemia major were detected to be combined with α thatassemia mutation Conclusion (1) The usage of genechip in identifying thalassemia mutations has the advantages of simplicity, economy and shorter time This technigue does not use radioisotope and could also detect α and β thalassemia mutations simultaneously (2) The occurrence of α and β thalassemia dual heterozygotes is frequent in Guangdong province and the genechip technology is important in genetic counseling and prenatal diagnosis of thalassemia in this area更多还原