黑龙江地区蒙古族HLA-A、B、DRB1等位基因及单体型的研究

Distribution of HLA-A,B,DRB1 allele frequencies and haplotype frequencies of Mongolia populations in Heilongjiang region,China

目的研究黑龙江地区蒙古族人群HLA-A、B、DRB1基因及单体型频率的分布特征,探讨黑龙江地区蒙古族患者利用中华骨髓库的无关供者资源进行移植的可能性,以及其他地区患者利用本地区中华骨髓库的无关供者资源进行移植的可能性。方法采用序列特异性寡核苷酸探针(PCR-SSOP)技术,对祖居黑龙江地区的157例无血缘关系蒙古族健康供者外周血血样进行HLA-A、B、DRB1基因分型,并翻译成相应的抗原特异性;采用最大似然法(EM)通过Arlequin3.1软件计算HLA基因和单体型频率,并统计相关的遗传参数。结果得到黑龙江地区蒙古族人群的HLA-A、B、DRB1基因及单体型频率及分布情况。黑龙江地区蒙古族人群中,频率>0.1的A、B、DRB1座位特异性分别为A2(0.342 3)、A24(0.153 2)、A11(0.139 6)、DR15(0.139 6)、DR7(0.135 1)、DR12(0.126 1)、DR9(0.117 1)、DR4(0.103 6);频率>0.03的A-B、B-DRB1单体型为A2-B61(0.066 7)、A1-B37(0.045 045)、A2-B48(0.040 541)、A2-B62(0.036 036)、A24-B54(0.031 532)、A2-B46(0.031 013)、B13-DR7(0.031 5)、B58-DR17(0.031 5);频率>0.02的A-B-DRB1单体型为A1-B37-DR10(0.027 0)、A2-B46-DR9(0.022 5)、A2-B48-DR12(0.0225)、A2-B62-DR12(0.022 5)、A30-B13-DR7(0.022 5);频率>0.0134的有意义两座位单体型中,A30-B13、B50-DR7、B58-DR17连锁不平衡强度最高(ALD>0.7)。并将这些数据与其它地区人群HLA数据进行了比较。结论黑龙江地区蒙古族人群具有独特的HLA-A、B、DRB1基因及单体型频率分布特征,其分布与民族和地域关系紧密。

Objective To study the HLA-A,B,DRB1 gene and haplotype frequency distribution characteristics of Mongolian populations in Heilongjiang,in order to provide data on the possibility of finding a compatible donor for Mongolian ethnic group from China Bone Marrow donor registry.Methods Using sequence-specific oligonucleotide probes（PCR-SSOP） technique to genotype HLA-A,B,DRB1 of 157 local Mongolian unrelated healthy donors in Heilongjiang region.Using maximum likelihood estimator method（EM） software to calculate HLA gene haplotype frequencies.Results In Heilongjiang Mongolian population,HLA-A,B,DRB1 loci with the specificity frequency of 〉0.1 were A2（0.3423）,A24（0.1532）,A11（0.1396）,DR15（0.1396）,DR7（0.1351）,DR12（0.1261）,DR9（0.1171）,and DR4（0.1036）.The haplotype frequency of A,B,B-DRB1,which is 〉0.03,were A2-B61（0.0667）,A1-B37（0.045045）,A2-B48（0.040541）,A2-B62（0.036036）,A24-B54（0.031532）,A2-B46（0.031013）,B13-DR7（0.0315）,and B58-DR17（0.0315）.And haplotype frequency of〉 0.02,were A1-B37-DR10（0.0270）,A2-B46-DR9（0.0225）,A2-B48-DR12（0.0225）,A2-B62-DR12（0.0225）,and A30-B13-DR7（0.0225）.Among the meaningful two-loci haplotypes with the frequency〉 0.0134,the linkage disequilibrium of A30-B13,B50-DR7 and B58-DR17 are the highest（ALD〉 0.7）.Conclusion The Mongolian population in Heilongjiang has unique HLA-A,B,DRB1 gene and haplotype frequency distribution characteristics,which could be related to ethnicity and geographical area.