陕西地区HLA确认和罕见等位基因及单体型研究  

The detection of rare and well-documented HLA alleles and haplotypes determination in the Shanxi Region

作　　者：王天菊[1] 齐珺[1] 陈利萍[1] 王小芳[1] 王满妮[1] 

机构地区：[1]陕西省血液中心,陕西西安710061

出　　处：《中国输血杂志》2017年第11期1238-1242,共5页Chinese Journal of Blood Transfusion

基　　金：中国造血干细胞捐献者资料库(CMDP)资助

摘　　要：目的本研究分析陕西地区1 276例临床血液病患者和供者HLA-A/B/C/DRB1/DQB1高分辨分型结果中确认等位基因(Well-Documented alleles)和罕见等位基因(Rare alleles)的检出情况并且总结确认等位基因相关单体型。方法应用PCR-SBT和PCR-SSOP 2种方法对临床血液病患者和供者HLA-A/B/C/DRB1/DQB1 5个位点进行高分辨检测和复核。结果 1 276例患者和供者中共检出48种确认等位基因并且分析总结出11种确认等位基因相关的单体型,检测出5个罕见等位基因HLA-A*11∶140、B*07∶248、C*08∶125、DQB1*06∶103和DQB1*06∶117,其中C*08∶125在同1个家族姐弟中被检出3次。结论在临床检测和分析的过程中,应该不断的记录和统计确认和罕见等位基因,保证中华骨髓库(China Marrow Donor Program,CMDP)HLA基因多态性的不断丰富,有助于中国CWD表的不断完善。对确认和罕见等位基因相关单体型总结和分析,为临床指导非亲缘造血干细胞移植供者的选择提供理论依据,保证携带确认和罕见等位基因的患者最大可能的找到匹配的供者。Objective The aim of this study was to investigate the current status of the presence of rare and non-frequent but well-documented HLA alleles and to estimate whether they are associated with specific alleles at other human leukocyte antigen（ HLA） loci from HLA-A/B/C/DQB1/DRB1 gene sets.Methods Samples were collected from 1276 patients and donors in the Shanxi region dating from 2010 to 2017. Polymerase chain reaction-sequence based typing method（ PCRSBT） and polymerase chain reaction-sequence specific oligonucleotide probes（ PCR-SSO） was conducted for HLA-A/B/C/DQB1/DRB1 high resolution genotyping on all the samples. Results 48 non-frequent but well-documented alleles were detected and among them 11 are associated with specific alleles at other HLA loci. There were 5 rare alleles HLA-A^＊11 ∶ 140,B^＊07 ∶248,C^＊08 ∶125,DQB1^＊06 ∶103,DQB1^＊06 ∶117 detected,of which,C^＊08 ∶125 were detected in three samples sourcing from a single family branch. Conclusion To ensure the polymorphism of HLA genes and provide valuable data for the Chinese Marrow Donor Program（ CWD）,it is necessary to record non-frequent but well-documented and rare alleles. Haplotype analysis of non-frequent alleles can be helpful in designing search strategies for patients with non-frequent alleles and rare alleles who need hematopoietic stem cell therapy.

关 键 词：人类白细胞抗原 高分辨确认分型实验 确认等位基因 罕见等位基因 单体型 

分 类 号：R457.1[医药卫生—治疗学]