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目的探讨人类白细胞抗原复合体HLA-B/C座位间的基因重组。方法采集拟进行造血干细胞移植的一例患者(男,39岁)及其妻女的外周血标本,首先对其HLA-Ⅰ、Ⅱ类区域的5个经典基因位点进行顺序特异引物PCR(PCR-SSP)低、高分辨基因分型及SBT分析,然后再进行遗传家系分析研究,确定HLA基因重组相关位点。结果HLA高分辨基因分型的结果证实患者(AML-M5患者)的2条单倍型分别为A2402101-Cw030401/0402-B1301-DRB10406-DQB1030302/0303与A02011-Cw150201/0202-B4002-DRB11405-DQB105031;其女儿的2条单倍型分别为A02011-Cw150201/0202-B1301-DRB10406-DQB1030302/0303与A2406-Cw0602-B1302-DRB1070101/0102-DQB10202;患者配偶的2条单倍型则分别为A330301/0302-Cw030201/0202-B5801-DRB117-DQB10202与A2406-Cw0602-B1302-DRB1070101/0102-DQB10202。从遗传家系分析显示,患者的女儿所携有的父源A02011-Cw150201/0202是源自父亲的一条染色单体,而B1301-DRB10406-DQB1030302/0303则源自父亲的另一条染色单体,这表明父亲的2条染色单体在减数分裂时HLA-B和-Cw基因座位间发生了重组,即2条染色体间发生了交换,重组后的单倍型又完整地遗传给了女儿。结论首次在国际上发现并证明了一例罕见的中国汉族人群HLA-B/C基因座位间的基因重组家系,这为更深入的研究HLA重组机制奠定了坚实基础。
Objective To investigate the gene recombination between HLA-B / C loci in human leukocyte antigen complex. Methods Peripheral blood samples of one patient (male, 39 years old) and his wives and females who were going to perform hematopoietic stem cell transplantation were collected. Five classical loci of HLA-Ⅰ and Ⅱ were sequenced by PCR- SSP) low, high-resolution genotyping and SBT analysis, and then genetic analysis of genetic lines to determine the HLA gene recombination-related sites. Results The results of HLA high-resolution genotyping confirmed that the two haplotypes in patients with AML-M5 were A2402101-Cw030401 / 0402-B1301-DRB10406-DQB1030302 / 0303 and A02011-Cw150201 / 0202-B4002-DRB11405-DQB105031 The two haplotypes of their daughters were A02011-Cw150201 / 0202-B1301-DRB10406-DQB1030302 / 0303 and A2406-Cw0602-B1302-DRB1070101 / 0102-DQB10202, respectively. The two haplotypes of their daughters were A330301 / 0302-Cw030201 / 0202-B5801-DRB117-DQB10202 and A2406-Cw0602-B1302-DRB1070101 / 0102-DQB10202. Analysis from the genetic family showed that the daughter of the patient had the paternal monosomic A02011-Cw150201 / 0202 as one of the dykes derived from the father, while the B1301-DRB10406-DQB1030302 / 0303 was derived from the dad’s other chromatid, which That the father of two chromatids in the meiosis HLA-B and -Cw gene rearrangement occurred between the seats, that is, two chromosomes have exchanged between the recombination haplotype and complete inheritance to the daughter. Conclusion For the first time, a rare case of HLA-B / C locus gene rearrangement in Chinese Han population was found and proved, which laid a solid foundation for further study on HLA recombination mechanism.