人类白细胞抗原A和C座位基因重组二个家系分析

Recombination between human leukocyte antigen -A and -C loci within two Chinese Han families

目的探讨2个家系人类白细胞抗原（humanleukocyteantigen，HLA）座位的重组情况。方法采用聚合酶链反应一序列特异寡核苷酸探针技术检测2个家系成员HLA—A、-C、-B、-DRB1和-DQB1位点，应用测序分型方法进行HLA高分辨基因分型，然后通过家系遗传分析确定HLA基因重组相关位点，检测短串联重复序列位点确定其家系成员亲权关系。结果2个家系HLA单倍型的重组发生在HLA—A和C位点之间，家系调查显示1例为父源、1例为母源HLA单倍型发生了交换后遗传给子代，短串联重复序列结果证实2个家系成员内具有高度的亲权关系。结论发现了2个中国汉族人群HLA—A和C基因座位间的基因重组家系，为深入研究HLA的重组机制提供了基础。

Objective To investigate the recombination events between human leukocyte antigen （HLA） loci within two families. Methods Identification of HLA-A, -C,-B, -DRB1 and -DQB1 loci was firstly carried out using polymerase chain reaction-sequence specific oligonucleotide. Then HLA high resolution typing was performed using polymerase chain reaction sequencing-based typing. The recombination between HLA loci was identified by family genetic analysis. The parentage possibility was analyzed by short tandom repeat technique. Results Recombination between the HLA-A and C loci was identified within two families. One individual inherited a paternal haplotype that was the result of a recombination event between the father＇s HLA-A and -C loci on his chromosomes. The other individual inherited a maternal haplotype that was the result of a recombination event between the mother＇s HLA-A and-C loci. The high parentage possibilities were obtained in the family members. Conclusion The recombination events of HLA-A and -C have been found in two Chinese families, which may help further study on the mechanism of HLA recombination.