摘要
目的 了解一家系人类白细胞抗原（human leucocyte antigen，HLA）复合体HLA—B／DR座位间的基因重组。方法 采集拟进行造血干细胞移植的1例急性淋巴细胞白血病患者（男，16岁）及其父母和3个姐姐的外周血标本,首先对其HLAⅠ、Ⅱ类A、B、DRB1 3个位点采用聚合酶链反应序列特异寡核苷酸探针技术（polymerase chain reaction—sequence specific oligonucleotide，PCR—SS0）和聚合酶链反应-序列特异性引物技术（polymerase chain reaction sequence specific primer，PCR—SSP）进行低分辨基因分型，然后用基于测序的分型方法（sequencing-based typing，SBT）进行高分辨基因分型，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的2条单倍型分别为A＊3101-B＊1301-DRB1＊0701和A＊3303-B＊4403-DRB1＊1302；其父亲的2条单倍型为A＊3001-B＊1302-DRB1＊0701和A＊3101-B＊1301-DRB1＊1501。从遗传家系分析显示，患者所携有的父源A＊3101-B＊1301单倍体是源自父亲的1条染色单体，而DRB1＊0701则源自父亲的另1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-DRB1基因座位间发生了交换，重组后的单倍型又完整地遗传给了患者。结论 发现了1个中国汉族人群HLAB／DR基因座位间的基因重组家系。
Objective To investigate a recombination event occurring between the HLA-B and DRB1 loci in a Chinese family with a leukemia patient. Methods HLA class Ⅰ （-A and -B） low resolution typing was carried out by polymerase chain reaction-sequence specific oligonucleotide, PCR-SSO）. HLA class Ⅱ low resolution typing was performed by PCR-sequence specific primer（PCR-SSP）. And HLA class Ⅰ and Ⅱ high resolution typing was done by sequencing-based typing （SBT）. Then the recombination event was analyzed by family study. Results The 2 haplotypes of the patient were A ＊ 3101-B ＊ 1301-DRB1 ＊ 0701 and A ＊ 3303 B ＊ 4403 DRB1 ＊ 1302. His father＇s 2 haplotypes were A＊ 3001-B＊ 1302-DRB1 ＊ 0701 and A -3101-B＊ 1301 DRB1＊1501. Family study demonstrated that the HLA-A＊ 3101-B＊1301 was from one of his father＇s chromosome and the DRB1 ＊ 0701 was from the other chromosome of his father. So the result indicated that the recombination event occurred between the HLA-B and -DRB1 loci during meiosis of his father and resulted in a new HLA haplotype that was transfered to the son. Conclusion A HLA-B/DR recombination event occurring between the HLA-B and -DRB1 loci has been found in a Chinese family, which may help further study of the mechanism of HLA recombination.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2009年第2期216-218,共3页
Chinese Journal of Medical Genetics
