中国输血杂志2017，Vol.30Issue(11)：1238-1242,5.DOI:10.13303/j.cjbt.issn.1004-549x.2017.11.007
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
摘要
Abstract
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 (PCR-SBT) 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Key words
human leukocyte antigen/high resolution genotyping/well-documented allele/rare allele/haplotype分类
临床医学引用本文复制引用
王天菊,齐珺,陈利萍,王小芳,王满妮..陕西地区HLA确认和罕见等位基因及单体型研究[J].中国输血杂志,2017,30(11):1238-1242,5.基金项目
中国造血干细胞捐献者资料库(CMDP)资助 （CMDP）
