【摘要】 作者研究了４１例急性髓系白血病（ＡＭＬ）Ｍ２ｂ患者ＡＭＬ１和ＭＴＧ８基因重排融合情况。利用Ｓｏｕｔｈｅｒｎ印迹杂交技术，发现８０％（２４／３０）患者有ＡＭＬ１基因重排，７８．６％（２２／２８）患者有ＭＴＧ８重排。使用逆转录－多聚酶链反应，在３７例ＡＭＬ１Ｍ２ｂ患者中均检出ＡＭＬ１／ＭＴＧ８融合基因。４例核型正常的ＡＭＬ１－Ｍ２ｂ也都有ＡＭＬ１／ＭＴＧ８融合基因转录本及／或ＡＭＬ１／ＭＴＧ８基因重排。在３１例其它类型ＡＭＬ中，仅在１例Ｍ６发现有ＡＭＬ１／ＭＴＧ８重排及ＡＭＬ１／ＭＴＧ８融合基因转录本。结果说明ＡＭＬ１／ＭＴＧ８重排及／融合可以作为ＡＭＬ－Ｍ２ｂ的基因标志，用来进行基因诊断和评价疗效及监测微量残留白血病。更多还原

【Abstract】 he t (8 : 21) reciprocal chromosomal translocationis frequently associated with MZb type of acute myeloidleukemia (AML). Recently, two genes, MTGS onchromosome 8 and AMLI on chromosome ZI, werefound. The t (8 ; 21 ) translocation resulted in rearrange-ments of the two genes and formation of AML1/MTG8fusion gene. To clarify the molecular characteristics ofAML-MZb, we studied 41 patients with AML-MZb.By Southern blot and hybridization , the rearrangementsof AMLI and MTGS genes were detected in 24 of 30and 22 of 28 patients, respectively. By means of reversetranscription and polymerase chain reaction (RT-PCR) ,the AMLllMTGS chimeric transcript was found in all37 patients. In 4 patients with AML-M2b of normalkaryotype, AML1/MTG8 fusion mRNA and /or rear-rangements of AML1 and MTG8 genes were detected.However, among 31 patients with other types of AML ,these abnormalities were found in only one patient withAML-M6. These results suggest that rearrangements ofAML1, MTG8 genes and /or AMLllMTGS fusiongene could be regarded as gene marker of AMLMZbthat can be applied in the diagnosis and monitoring oftherapy and minimal residual disease.更多还原