急性白血病及其前期与患者(儿)父母关系的遗传学研究  

Received October 3,1996,revision received September 10,1997Relationship Between the Occurences of AL, MDS and AA andAbnormal BM Proliferation of Patient's Parents

作　　者：冯宝章[1,2] 雷健玲[1,2] 林泽嬉 邵宗鸿[1,2] 王琦[1,2] 

机构地区：[1]中国医学科学院中国协和医科大学血液学研究所血液病医院 [2]天津市儿童医院

出　　处：《Acta Genetica Sinica》1998年第2期103-111,共9页

基　　金：天津市自然科学基金

摘　　要：在长期研究家族性白血病及其前期的基础上，应用相同的血液学和细胞遗传学指标及Ｓｏｕｔｈｅｒｎ印迹杂交技术，对２０例急性白血病及其前期患者（儿）父母或兄弟姐妹等一级亲属骨髓和外周血进行研究，发现散发性白血病及其前期同家族性白血病及其前期一样，与患者（儿）父母骨髓巨核系、红系或／和粒系异常增生相关。家族性白血病及其前期患者（儿）父母一方或双方还有家族性骨髓细胞染色体单体性即非随机丢失或外周血显示淋巴细胞叶酸敏感型染色体脆性部位的高表达；而散发性白血病及其前期患者（儿）父母多数骨髓细胞核型正常，但其外淋巴细胞则表现出多种类型的染色体异常。鉴于以往已证明家族性骨髓巨核系和红系异常增生及其相关的ｃｅｒｂＢ重排的可遗传性，以及骨髓病态造血与ｃｅｒｂＢ重排扩增的相关性，除了ｃｅｒｂＢ重排扩增以及ＶｅｒｂＢＰＣＲ检测结果可作为白血病前期基因诊断指标外，ｃｅｒｂＢ重排及其相关的骨髓异常增生看来还可用于婚前检查、产前诊断和遗传咨询服务等，以便对白血病进行预防。fter studying of familial leukemias, Myelodysplastic Syndrome (MDS) and aplastic anemia (AA), we observed and analysed bone marrow (BM) cells hematologically and molecularcytogenetically in 36 persons who are first degree relatives (FDRs) of patients with acute leukemias (AL), MDS and AA. The peripheral blood (PB) lymphocyte chromosome fragility sensitive to folic acid and unstability was also analysed in 18 FDRs. The abnormal BM megakaryocystic/erythroid cellularity and the rearrangement of cerbB were found in 66%～86.1% of parents and siblings of patients. The associations of dysplastic megakaryopoiesis, including the presence of lymphoid small megakaryocytes, with the chromosomal monosomy or/and the rearrangement/amplification of cerbB, were found in a few parents and siblings. These results were consistent with those of MDS、 Fanconi Anemia (FA) and AL. The normal karyotype and SCD positive of BM cells and PB lymphocytes, and PB lymphocyte chromosomal fragility and unstability were found in most of patients' parents, while familial chromosomal monosomy of BM cells and PB lymphocyte chromosomal fragility were found in parents and siblings of familial leukemia patients. Based on the studies of a large family with 7 cases of acute erythroleukamia and relative myeloleukemias in three consecutive generations and a family with 3 CAA and1 AML, the rearrangement of cerbB might be inherited. The rearrangement/amplification of cerbB and its PCR detected results could be the indicators of gene diagnosis of preleukemia and might be useful in genetic conselling of leukemias. The common origin of AL, MDS and AA was discussed.

关 键 词：前期 染色体不稳定 脆性部位 急性白血病 

分 类 号：R733.710.2[医药卫生—肿瘤]