摘要
目的:检测湖南地区汉族白血病患者与正常人外周血白细胞糖基化磷脂酰肌醇特异性磷脂酶D(GPI-PLD)基因外显子14区多态性、白细胞GPI-PLD活性及两者的关系。方法:以湖南地区汉族96例白血病患者(包括A组:48例急性非淋巴细胞性白血病;B组:31例急性淋巴细胞性白血病;C组:12例慢性粒细胞性白血病;D组:5例慢性淋巴细胞性白血病)和96名正常人为研究对象,用PCR-SSCP结合DNA测序技术进行多态性分析,并利用具完整GPI结构的胎盘碱性磷酸酶做底物通过TX-114分相,定量检测白细胞中GPI-PLD活性。结果:白血病患者与正常人GPI-PLD基因外显子14区均发现有4处碱基变异,包括外显子第1 257位核苷酸C→T,1 298位T→C,1 218位C→A,1 257位C→A变异;SSCP检出阳性率,正常人为20.83%,白血病患者为28.12%。检测96例白血病患者外周血白细胞GPI-PLD活性(转化底物百分率)时发现,急性非淋巴细胞性白血病和慢性淋巴细胞性白血病患者酶活性较正常人显著性增高,急性淋巴细胞性白血病和慢性粒细胞性白血病患者酶活性较正常人显著性降低。结论:湖南地区汉族白血病患者与正常人外周血白细胞GPI-PLD基因具有多态性,不同类型白血病人酶活性不同。
Objective To analyze the polymorphisms of glycosylphosphatidylinositol - specific phospholipase D （GPI-PLD） gene exon 14, GPI-PLD activity of leucocyte in the peripheral blood, and the relationship in leukemia patients of Han nationality in Hunan. Methods Both 96 leukemia patients and 96 healthy persons of Han nationality in Hunan were researched [ including 48 acute non-lymphocytic leukaemia （ANLL） patients as group A, 31 acute lymphoblastic leukaemia （ALL） patients as group B, 12 chronic granulocytic leukaemia （CML） patients as group C, 5 chronic lymphocytic leukaemia （CLL） patients as group D]. The polymorphisms were analyzed by PCR-SSCP and sequencing;, and GPI-PLD activities were determined by GPI-anchored placental alkaline phosphatase （PLAP） as substrate and triton-X114 partioning. Results There were four variations in the coverage of GPI-PLD gene exon 14 of leukemia patients and healthy persons. The codons of variation were： 1 257 C→T, 1 298 T→C, 1 218 C→A, 1 257 C→A. The total various frequency in leukemia patient and healthy person, which was determined by SSCP, was 28.12% and 20.83%. On the basis of the percentage of GPI-anchored PLAP conversion, the leucocyte GPI-PLD activities of the 96 leukemia patients were measured. Compared with the 96 healthy controls, the leukocyte GPI-PLD activites creased; the acticities of ALL and CML patients were of ANLL and CLL patients were significantly insignificantly reduced. Conclusion Leukocyte GPI-PLD gene in the peripheral blood, which belongs to healthy persons and leukemia patients of Han nationality in Hunan, is polymorphism. The leukocyte GPI-PLD activities in the four groups are remarkable.
出处
《中南大学学报（医学版）》
CAS
CSCD
北大核心
2006年第1期28-31,共4页
Journal of Central South University ：Medical Science
基金
国家自然科学基金(39970315
30271456)
