A recombination event occurring between HLA-B and DRB1 loci within a Chinese Han family / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate a recombination event occurring between the HLA-B and DRB1 loci in a Chinese family with a leukemia patient.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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 transferred to the son.</p><p><b>CONCLUSION</b>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.</p>