一个急性淋巴细胞白血病家系的遗传学研究  

Genetic studies on a family with acute lymphocytic leukemia

作　　者：冯宝章[1] 雷健玲[1] 林泽嬉[1] 卞寿庚[2] 周燕[3] 刘敬忠[3] 

机构地区：[1]天津市韦尔柏基因治疗产品开发有限责任公司韦尔柏实验室,天津300020 [2]中国医学科学院中国协和医科大学血液病医院 [3]首都医科大学朝阳医院遗传室

出　　处：《肿瘤研究与临床》2007年第9期646-648,共3页Cancer Research and Clinic

摘　　要：目的研究一个急性淋巴细胞白血病(ALL)家系。方法应用遗传学和血液学方法,对其连续3代成员进行了3次骨髓检查并行随访观察。结果此家系连续3代成员有家族性血小板功能异常,应用 V-erbB 引物进行 PCR 检测,发现此两个不同类型白血病家系中白血病和白血病前患者骨髓细胞基因组内存在内源性 V-erbB 亚基因及其缺失突变,表明髓系和淋系白血病存在共同的致病基因异常。结论白血病可能是一种多基因遗传疾病,其致病基因是内源性 V-erbB,ALL 发病机制与肿瘤相似。Objective To study a family with ALLs.Methods Genetic and hematologic techniques. Results In 1972-1991 5 ALLs occurred in ten members of third generations.The bleeding symptom were found in 7 members of three consecutive generations,including 5 ALL children.By using V-erbB PCR and sequencing,the endogenous V-erbB subgene was found in a AMMoL(Ⅲ-2)and a preleukemia(Ⅲ-8)in two families,respectively.And also the deletional mutation of endogenous V-erbB was found in AMMOL but not in ALL-PL.These results suggested that AML and ALL might have common pathogenic gene and abnormality. Besides these,the familial NCL and DNA repair defect would help to develop leukemia and cancer.Cancer may have the mechanism of carcinogenesis,similary to those of ALL.Conclusion Leukemia may be a hereditary disease with multiple related genes,although most of them can not inherit in phenotypie way.

关 键 词：白血病 淋巴细胞 急性 系谱 DNA 损伤 染色体丢失 基因 V-erhB 遗传学 

分 类 号：R733.71[医药卫生—肿瘤]