Human leukocyte antigen-A*24:02-B*40:247-C*03:04-DRB1*16: 02, a deduced probable human leukocyte antigen haplotype associated with a low-incidence human leukocyte antigen allele B*40:247 in Taiwanese individuals: A case analysis

被引:1
作者
Yang, Kuo-Liang [1 ,2 ,3 ]
Zheng, Zheng-Zhong [4 ]
Lin, Li-Yun [5 ]
机构
[1] Hualien Tzu Chi Hosp, Buddhist Tzu Chi Stem Cells Ctr, Tzu Chi Cord Blood Bank, Lab Immunogenet, Hualien, Taiwan
[2] Hualien Tzu Chi Hosp, Buddhist Tzu Chi Stem Cells Ctr, Buddhist Tzu Chi Marrow Donor Registry, Hualien, Taiwan
[3] Tzu Chi Univ, Dept Lab Med, Hualien, Taiwan
[4] China Shanghai Tissuebank Diagnost, Dept Res, Shanghai, Peoples R China
[5] Chung Shan Med Univ, Dept Med Technol, Taichung, Taiwan
来源
TZU CHI MEDICAL JOURNAL | 2018年 / 30卷 / 02期
关键词
Haplotype; HLA; Sequence-based typing; Taiwanese; Transplantation;
D O I
10.4103/tcmj.tcmj_19_18
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective:HLA-B*40:247 is a low incidence allele in the HLA-B locus. The aim of this study is to confirm the ethnicity of B*40:247 and its deduced probable HLA-associated haplotype in Taiwanese individuals. Materials and Methods:A total of 2,329 unrelated Taiwanese individuals and 66,212 unrelated mainland Chinese individuals were tested for HLA using a sequence-based typing method. We confirmed the low incidence allele B*40:247 in Taiwanese. Polymerase chain reaction was performed to amplify exons 2, 3 and 4 of the HLA-A and HLA-B loci and exon 2 of the HLA-DRB1 locus using group-specific primer sets. The amplicons were sequenced in both directions with the *BigDye Terminator Cycle Sequencing Ready Reaction Kit according to the manufacturer's protocols. Results:The DNA sequence of B*40:247 is identical to B*40:01:01 in exons 2, 3 and 4 except for residue 853, where G of B*40:01:01 is changed to A in B*40:247 (codon 261, GTA->ATA). The nucleotide replacement causes a one amino acid change at codon 261 where V (valine) of B*40:01:01 is replaced by I (isoleucine) in B*40:247. We deduced the probable HLA haplotype associated with B*40:247 in Taiwanese to be HLA-A*24:02-B*40:247-C*03:04-DRB1*16:02. Conclusion:Information on the ethnicity and distribution of B*40:247 and its deduced probable HLA haplotype in association with the low incidence allele is of value for HLA testing laboratories for reference purposes and can help bone marrow donor registries find compatible donors for patients with this uncommon HLA allele.
引用
收藏
页码:81 / 84
页数:4
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