中国组织工程研究

中国组织工程研究 ›› 2012, Vol. 16 ›› Issue (53): 9999-10004.doi: 10.3969/j.issn.2095-4344.2012.53.023

• 移植与基因 transplantation and gene • 上一篇    下一篇

新等位基因HLA-A*11:97与HLA-B*44:127的确认

胡 彬，迟晓云，冯智慧   

  1. 青岛市中心血站输血研究所，山东省青岛市 266071
  • 收稿日期:2012-06-12 修回日期:2012-08-27 出版日期:2012-12-30 发布日期:2012-12-30
  • 通讯作者: 冯智慧，硕士，主治医师，青岛市中心血站输血研究所，山东省青岛市 266071
  • 作者简介:胡彬★，女，1973年生，四川省大足县人，汉族，2005年青岛大学医学院毕业，硕士，主治医师，主要从事免疫遗传方面的研究。 huh_138@hotmail.com

Identification of novel human leukocyte antigen alleles: A*11:97 and B*44:127

Hu Bin, Chi Xiao-yun, Feng Zhi-hui   

  1. Institute of Blood Transfusion, Qingdao Blood Center, Qingdao 266071, Shandong Province, China
  • Received:2012-06-12 Revised:2012-08-27 Online:2012-12-30 Published:2012-12-30
  • Contact: Feng Zhi-hui, Master, Attending physician, Institute of Blood Transfusion, Qingdao Blood Center, Qingdao 266071, Shandong Province, China huh_138@163.com
  • About author:Hu Bin★, Master, Attending physician, Institute of Blood Transfusion, Qingdao Blood Center, Qingdao 266071, Shandong Province, China huh_138@hotmail.com

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摘要：

背景：近几年来，随着分子生物学的发展及人类白细胞抗原分型技术的提高，人类白细胞抗原新等位基因不断被发现。
目的：识别并确认两个新的人类白细胞抗原等位基因。
方法：应用PCR-SBT、GSSP及单链测序基因分型技术对两份中华骨髓库供者样本进行人类白细胞抗原A，B，DRB1位点进行基因分型，对新等位基因进行DNA测序并与已知同源性最高的等位基因型进行序列比对。
结果与结论：两个样本各有一个位点与目前已知的相应人类白细胞抗原A、B等位基因序列均不一致，样本1与其同源性最高的A*11:01:01的差异表现在第2外显子区域中的193G>T，194C>T，导致第41位密码子由丙氨酸变为亮氨酸，样本2与其同源性最高的B*44:02比较差异表现在第2外显子区域中第320位碱基由G>A，导致编码的第83位密码子由精氨酸变为组氨酸。说明两个样本分别为人类白细胞抗原A 和B位点的新等位基因,并已被WHO 人类白细胞抗原因子命名委员会正式命名为人类白细胞抗原A*11:97和B*44:127。

关键词: 人类白细胞抗原, 新等位基因, HLA-A*11:97, HLA-B*44:127, 组序列特异性引物, 单链测序, 外显子, 分子生物学, 中华骨髓库, 同源性基因, DNA测序

Abstract:

BACKGROUND: In recent years, with the development of molecular biology and the improvement of human leukocyte antigen typing technique, novel allele of human leukocyte antigen has been discovered constantly.
OBJECTIVE: To identify and confirm two novel human leukocyte antigen alleles
METHODS: The gene typing of human leukocyte antigen A, human leukocyte antigen B and DRB1 site was performed on two samples from the Chinese Bone Marrow Bank with the PCR-SBT, GSSP and single-stranded sequencing genotyping technology, then the DNA sequencing was performed on the new alleles, and the sequence alignment was conducted between the new alleles and the known allele with the highest homology.
RESULTS AND CONCLUSION: One of the sequences of two samples was different from the sequence of the allele of human leukocyte antigen A and human leukocyte antigen B. Sample 1 indicated that it differed from the closet matching allele A*11:01:01 in two nucleotide substitutions 193G>T and 194C>T in Exon2 that resulting in amino acid changed from Alanine (Ala) to Leucine (Leu) at codon 41, and sample 2 differed from the closet matching allele B*44:02 in one nucleotide substitution 300G>A in Exon2 that resulting in amino acid changed from Arginine (Arg) to Histidine (His) at codon 83. The novel alleles were identified as human leukocyte antigen A and human leukocyte antigen B and assigned the name of human leukocyte antigen A*11:97 and B*44:127 officially by the WHO Nomenclature Committee.

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