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HLA - A*29:01 - B*07:05 - C*15:29*DRB1*10:01 - DQB1*05:01，一种推测可能的人类白细胞抗原单倍型，与台湾个体中一种人类白细胞抗原 - C低发生率等位基因C*15:29相关。

HLA-A*29:01-B*07:05-C*15:29*DRB1*10:01-DQB1*05:01, a deduced probable human leukocyte antigen haplotype in association with a human leukocyte antigen-C low-incidence allele C*15:29 in Taiwanese individuals.

作者信息

Yang Kuo-Liang, Zheng Zheng-Zhong

机构信息

Laboratory of Immunogenetics, Tzu Chi Cord Blood Bank and Buddhist Tzu Chi Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan.

Department of Laboratory Medicine and Biotechnology, Tzu Chi University, Hualien, Taiwan.

出版信息

Tzu Chi Med J. 2019 Apr-Jun;31(2):86-89. doi: 10.4103/tcmj.tcmj_111_18.

DOI:10.4103/tcmj.tcmj_111_18
PMID:31007487
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6450153/
Abstract

OBJECTIVE

HLA-C15:29 is a low-frequency allele in the human leukocyte antigen (HLA)-C locus. The aim of this study is to confirm the ethnicity of C15:29 and to deduce a probable HLA haplotype in association with C*15:29 in Taiwanese population.

MATERIALS AND METHODS

A total of 12,534 healthy unrelated Taiwanese individuals were tested for HLA using a sequence-based typing method. The DNA material was subjected to HLA genotyping for the HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 loci using a commercial polymerase chain reaction-sequencing-based typing kit as per the manufacturer's protocols.

RESULTS

The DNA sequence of C15:29 is identical to C15:02:01:01 in exons 1, 2, 3, 4, 5, and 6 except for residues 420 and 1034 where A and G of C15:02:01:01 are substituted by C and A in C15:29, respectively. The nucleotide substitutions introduce two amino acid replacements at residues 116 and 321 where leucine (L) and cysteine (C) of C15:02:01:01 are replaced by phenylalanine (F) and tyrosine (Y) in C15:29, respectively. A probable HLA haplotype associated with C15:29 in Taiwanese was deduced as A29:01-B07:05-C15:29-DRB110:01-DQB105:01. The frequency of C*15:29 is estimated at about 0.064%.

CONCLUSION

Information on the ethnicity and distribution of C*15:29 and its deduced probable HLA haplotype 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.

摘要

目的

人类白细胞抗原（HLA）-C基因座中的HLA-C15:29是一个低频等位基因。本研究的目的是确定C15:29的种族来源，并推导台湾人群中与C*15:29相关的可能的HLA单倍型。

材料与方法

使用基于序列的分型方法对总共12534名健康的无血缘关系的台湾个体进行HLA检测。按照制造商的方案，使用商业聚合酶链反应-测序分型试剂盒对DNA样本进行HLA-A、HLA-B、HLA-C、HLA-DRB1和HLA-DQB1基因座的基因分型。

结果

C15:29的DNA序列在第1、2、3、4、5和6外显子中与C15:02:01:01相同，除了第420和1034位残基，其中C15:02:01:01的A和G分别被C15:29中的C和A取代。核苷酸替换在第116和321位残基处引入了两个氨基酸替换，其中C15:02:01:01的亮氨酸（L）和半胱氨酸（C）分别被C15:29中的苯丙氨酸（F）和酪氨酸（Y）取代。推导出台湾人群中与C15:29相关的一个可能的HLA单倍型为A29:01-B07:05-C15:29-DRB110:01-DQB105:01。C*15:29的频率估计约为0.064%。

结论

关于C*15:29的种族来源和分布及其推导的可能的HLA单倍型的信息，对HLA检测实验室具有参考价值，并有助于骨髓供体登记处为携带这种罕见HLA等位基因的患者找到匹配供体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cc5/6450153/093a892f4d20/TCMJ-31-86-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cc5/6450153/093a892f4d20/TCMJ-31-86-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cc5/6450153/093a892f4d20/TCMJ-31-86-g001.jpg

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