An unusual recombination event occurring between HLA-B and -Cw loci within a Chinese Han family
Luo, Y.; Sun, Y-ying.; Jin, L.; Liang, F.; Liu, N.; Song, X-qiang.; Yuan, F.; Liu, S-guang.; Liu, J-feng.; Xi, Y-zhi.
Zhonghua Yi Xue Za Zhi 86(9): 628-631
2006
ISSN/ISBN: 0376-2491 PMID: 16681910 Document Number: 601371
To investigate the recombination event occurring between HLA-B and -Cw loci discovered in a family of Chinese Han nationality with an acute myeloid leukemia (AML) patient. Peripheral blood samples were collected from a Chinese man with M5 type AML, aged 39, and his healthy wife and daughter, all of Han nationality. HLA class I (-A, -B, and -Cw) and II (-DRB1 and -DQB1) alleles were typed by both low and high resolution PCR with sequence specific primers (PCR-SSP) and sequence-based typing (SBT). Then the recombination sites were analyzed by family study. The 2 haplotypes of the patient, his daughter, and his wife were A*2402101-Cw*030401/0402-B*1301-DRB1*0406-DQR1*030302/0303 and A*02011-Cw*150201/0202-B*4002-DRB1*1405-DQB1*05031, A*02011-Cw*150201/0202-B*1301-DRB1*0406-DQB1*030302/0303 and A*2406-Cw*0602-B*1302_DRB1*070101/0102-DQB1*0202, and A*330301/0302-Cw*030201/0202-B*58-1-DRB1*17-DQB1*0202 and A*2406-Cw*0602-B*1302-DRB1*070101/0102-B*5801-DRB1*0202 respectively. Family study demonstrated that A*02011-Cw*150201/0202 recombination and B*1301-DRB1*030302/0303 recombination carried by the daughter came from the 2 isolated chromosomes of her father, indicating that the recombination event occurred between HLA-B and -Cw loci during meiosis of the father and resulted in a new HLA haplotype that was inherited by the daughter. An unusual HLA-B/Cw recombination event occurring between HLA-B and -Cw loci has been found in a Han family, which helps further study the mechanisms of HLA recombination.