[与-、与-基因座之间的基因重组分析]
[Analysis of Gene Recombination between and -, and - Loci].
作者信息
Chen Chen, Wang Wei, Chen Nan-Ying, Dong Li-Na, Zhang Wei, Zhu Fa-Ming
机构信息
School of Medical Technology and Information Engineering, Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China; Blood Center of Zhejiang Province, Hangzhou 310052, Zhejiang Province, China; Key Laboratory of Blood Safety Research of Zhejiang Province, Hangzhou 310052, Zhejiang Province, China.
Blood Center of Zhejiang Province, Hangzhou 310052, Zhejiang Province, China; Key Laboratory of Blood Safety Research of Zhejiang Province, Hangzhou 310052, Zhejiang Province, China.
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2023 Jun;31(3):855-859. doi: 10.19746/j.cnki.issn.1009-2137.2023.03.035.
OBJECTIVE
To investigate the recombinations within the human leukocyte antigen (HLA) region in two families.
METHODS
Genomic DNA was extracted from the peripheral blood specimens of the different family members. and - loci were genotyped using polymerase chain reaction-sequence specific oligonucleotide probing technique (PCR-SSO) and next-generation sequencing technique. HLA haplotype was determined by genetic analysis of the pedigree.
RESULTS
The haplotypes of and in the family 1 were recombined between and loci, which formed the haplotype of The haplotypes of and in the family 2 were recombined between and loci, which formed the haplotype of .
CONCLUSION
The gene recombination events between and - and - loci were found respectively in two Chinese Han families.
目的
研究两个家族中人类白细胞抗原（HLA）区域内的重组情况。
方法
从不同家族成员的外周血标本中提取基因组DNA，使用聚合酶链反应-序列特异性寡核苷酸探针技术（PCR-SSO）和下一代测序技术对HLA基因座进行基因分型。通过系谱的遗传分析确定HLA单倍型。
结果
家族1中HLA-A和HLA-B的单倍型在HLA-A和HLA-DRB1基因座之间发生了重组，形成了新的单倍型HLA-A02:01-B46:01-DRB109:01。家族2中HLA-A和HLA-B的单倍型在HLA-A和HLA-DQB1基因座之间发生了重组，形成了新的单倍型HLA-A24:02-B40:01-DQB103:02。
结论
在两个中国汉族家族中分别发现了HLA-A和HLA-DRB1基因座之间以及HLA-A和HLA-DQB1基因座之间的基因重组事件。
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