Gao Su-qing, Cheng Liang-hong, Lu Liang, Jing Shi-zheng, Cheng Xi, Zhang Yin-ze, Zou Hong-yan, Deng Zhi-hui
Shenzhen Blood Center Institute, Shenzhen HLA Laboratory of Chinese Marrow Donor Program, Shenzhen, Guangdong, 518035 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):82-6. doi: 10.3760/cma.j.issn.1003-9406.2009.01.019.
To analyze the difference between the frequencies of HLA-A-B, B-DRB1 and A-B-DRB1 haplotype, as well as their linkage disequilibrium pattern in patients with acute lymphoblastic leukemia(ALL) and healthy controls from Northern Chinese Han.
The frequencies of HLA-A-B, B-DRB1, A-B-DR haplotypes and linkage disequilibrium were estimated by Expectation Maximization method based on the genotypes of 643 patients with ALL and 2 0359 unrelated healthy donors, and the statistical significance between the two groups were estimated by chi-square test. Linkage disequilibrium was analyzed with population genetic methods.
The most common HLA-A-B, B-DRB1, and A-B-DR haplotypes were A30-B13, A2-B46, A33-B58, B13-DR7, B46-DR9, B52-DR15, B58-DR17, A30-B13-DR7, A33-B58-DR17 and A1-B37-DR10 in both groups. The frequencies of A30-B13, A2-B46, A33-B44, B13-DR7, A30-B13-DR7 and A2-B46-DR9 haplotypes and linkage disequilibrium value were significantly decreased (P<0.05) in the patient group than that in the control group. On the other hand, the frequencies of A2-B52, A31-B61, A24- B8, B60-DR9, B27-DR4, B52-DR14, B44-DR17, B27-DR12 and A11-B27-DR12 haplotypes and linkage disequilibrium value were significantly increased (P<0.05) in the patient group than that in the control group.
There are some common and positive linkage disequilibrium haplotypes in both the ALL patients and the healthy donors in Northern Chinese Han. Interestingly, some haplotypes and their linkage disequilibrium patterns had significantly different distributions between the two groups. The study provided basic data for the relationship of ALL and HLA haplotype and for finding the HLA-A, B, DR matching donors.
分析中国北方汉族急性淋巴细胞白血病（ALL）患者与健康对照者中HLA - A - B、B - DRB1及A - B - DRB1单倍型频率差异及其连锁不平衡模式。
基于643例ALL患者和20359例无关健康供者的基因型，采用期望最大化法估计HLA - A - B、B - DRB1、A - B - DR单倍型频率及连锁不平衡情况，并通过卡方检验评估两组间的统计学意义。采用群体遗传学方法分析连锁不平衡。
两组中最常见的HLA - A - B、B - DRB1及A - B - DR单倍型分别为A30 - B13、A2 - B46、A33 - B58、B13 - DR7、B46 - DR9、B52 - DR15、B58 - DR17、A30 - B13 - DR7、A33 - B58 - DR17和A1 - B37 - DR10。患者组中A30 - B13、A2 - B46、A33 - B44、B13 - DR7、A30 - B13 - DR7和A2 - B46 - DR9单倍型频率及连锁不平衡值较对照组显著降低（P<0.05）。另一方面，患者组中A2 - B52、A31 - B61、A24 - B8、B60 - DR9、B27 - DR4、B52 - DR14、B44 - DR17、B27 - DR12和A11 - B27 - DR12单倍型频率及连锁不平衡值较对照组显著升高（P<0.05）。
中国北方汉族ALL患者和健康供者中存在一些常见且呈正向连锁不平衡的单倍型。有趣的是，两组间某些单倍型及其连锁不平衡模式分布存在显著差异。本研究为ALL与HLA单倍型的关系及寻找HLA - A、B、DR匹配供者提供了基础数据。
