KIR3DL3等位基因多态性与南方汉族人群白血病的关联研究  

Association of KIR3DL3 allelic diversity with leukemia in southern Chinese Han population

作　　者：蔡思齐 邓志辉[1] CAI Siqi;DENG Zhihui(Shenzhen Blood Center,Shenzhen 518035,China.)

机构地区：[1]深圳市血液中心

出　　处：《中国输血杂志》2018年第9期923-926,共4页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金(81373158)

摘　　要：目的了解中国南方汉族人群KIR3DL3等位基因多态性与白血病的相关性。方法收集急性髓系白血病患者（AML组,n=137）、急性淋巴细胞白血病患者（ALL组,n=141）以及健康无关志愿献血者（对照组,n=306）的血样（3组均为南方汉族）,提取基因组DNA,应用本实验室设计的引物对KIR3DL3全部外显子进行测序分型,用Assign 4. 7. 1软件判定基因型。使用SPSS 22. 0统计软件对2个病例组与对照组中检出的每个KIR3DL3等位基因做差异性分析。结果 AML组、ALL组和对照组分别检出了12、14、16种等位基因。ALL病例组和对照组中KIR3DL3＊004和＊028等位基因的检出比例分别为12. 77%（18/141） vs 1. 63%（5/306）与11. 35%（16/141） vs 3. 27%（10/306）,（Pc〈0. 05）。AML病例组中检出的各等位基因的检出比例与对照组比较无明显差异（P〉0. 05）。结论本组人群携带的KIR3DL3＊004、＊028等位基因为中国南方汉族人群发生ALL的易感因子。Objective To investigate the association between KIR3 DL3 allelic polymorphism with leukemia in southern Chinese Han population. Methods A total of 278 leukemic patients including 137 patients with acute myeloid leukemia（ AML） and 141 patients with acute lymphoblastic leukemia（ ALL） were enrolled in the present study. 306 unrelated healthy blood donors were recruited as healthy control group. All the leukemic patients and the healthy people are from southern Chinese Han population. All the samples were subjected to sequence-based typing（ SBT） at the entire exons of KIR3 DL3 gene by our in-house KIR3 DL3 SBT assay. Genotype of each sample was determined with Assign 4. 7. 1 software. SPSS 22. 0 was applied to analyze the significant test for each KIR3 DL3 allele between the case group and the control group. Results In the AML group and ALL group,12 and 14 different alleles were determined,respectively. 16 different alleles were detected in unrelated healthy control group. The frequencies of KIR3 DL3＊004 and＊028 for the ALL group and the control group are12. 77%（ 18/141） vs 1. 63%（ 5/306） and 11. 35%（ 16/141） vs 3. 27%（ 10/306）,respectively. Significant difference was observed（ Pc0. 05） when compared the frequencies of KIR3 DL3＊004 and＊028 alleles in ALL group with healthy controls,respectively. However,no significant difference was observed when compared the frequency of identified KIR3 DL3 alleles in the AML group with the healthy control group. Conclusion Both the KIR3 DL3＊004 and＊028 alleles are risk factors for ALL in southern Chinese Han population.

关 键 词：杀伤细胞免疫球蛋白样受体 KIR3DL3基因 等位基因 多态性 白血病 中国南方汉族 测序分型 

分 类 号：R446.62[医药卫生—诊断学] Q753[医药卫生—临床医学]