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目的通过人群的HNA基因多态性的调查,了解人群各HNA抗原的分布情况,推测该人群中可能参与免疫性粒细胞减少症的主要HNA抗原。方法本研究采用序列特异性引物聚合酶链反应(PCR-SSP)方法对无血缘关系的647名健康汉族人和328名健康壮族人进行HNA-1~5的基因分型和多态性研究,调查了解汉族和壮族人群中HNA-1~5的基因频率多态性分布。结果在HNA-1系统,HNA-1a是汉族(0.6893)和壮族(0.7454)人群的高频率等位基因,与欧洲、南美洲、非洲等以HNA-1b为高频率等位基因的地区人群有着明显的差异,汉族和壮族人群中均未发现HNA-1c等位基因个体存在;在HNA-2 SNP 42C/G中,42C是汉族(0.697 1)和壮族(0.724 1)人群中频率较高的等位基因;在HNA-3,HNA-3a和3b基因频率在汉族和壮族人群中分别为0.687 0/0.313 0和0.739 3/0.260 7,汉、壮族人群的HNA-3等位基因频率分布与德国及土耳其等人群无差异;在HNA-4中,HNA-4b是汉族(0.007 0)和壮族(0.019 8)人群的罕见基因,在这2个人群中均未发现HNA-4bb纯合子基因型个体;在HNA-5中,HNA-5a和5b等位基因频率在汉族和壮族人群分别为0.819 9/0.180 1和0.783 5/0.216 5。汉族与壮族人群HNA各等位基因频率分布比较,除HNA-2,-5的等位基因频率分布无差别外,HNA-1,-3,-4的各等位基因频率分布均不同。结论与其它地区人群比较,汉族、壮族人群HNA基因频率分布均有着各自的独特特征,本研究数据将有助于我们了解汉族和壮族人群中HNA的免疫学特征。
OBJECTIVE: To investigate the distribution of HNA antigens in the population through the investigation of HNA gene polymorphism in the population, and to speculate the major HNA antigens that may participate in the immune neutropenia in this population. Methods In this study, genotypes and polymorphisms of HNA-1 ~ 5 were genotyped in 647 Han and 328 healthy non-related Han ethnicity using sequence-specific primer polymerase chain reaction (PCR-SSP) To investigate the HNA-1 ~ 5 gene frequency polymorphism distribution in Han and Zhuang populations. Results In the HNA-1 system, HNA-1a was a high-frequency allele of Han population (0.6893) and Zhuang population (0.7454), and was associated with the regional population with HNA-1b as the high frequency allele in Europe, South America and Africa Significant differences were found in HNA-1c alleles between Han and Zhuang populations. In HNA-2 SNP 42C / G, 42C was higher in Han (0.697 1) and Zhuang (0.724 1) populations The frequencies of HNA-3, HNA-3a and 3b genes in Han and Zhuang populations were 0.687 0 / 0.313 0 and 0.739 3 / 0.260 7, respectively. The frequencies of HNA-3 alleles in Han and Zhuang populations were similar to Germany and Turkey. In HNA-4, HNA-4b was a rare gene in Han population (0.007 0) and Zhuang population (0.019 8). No HNA-4bb homozygote genotype was found in these two populations Individuals. In HNA-5, the frequencies of HNA-5a and 5b alleles were 0.819 9 / 0.180 1 and 0.783 5 / 0.216 5 respectively in Han and Zhuang populations. The frequencies of HNA alleles in Han and Zhuang populations were different except for the frequency distribution of alleles of HNA-2 and -5. The allele frequencies of HNA-1, -3 and -4 were all different. Conclusions Compared with other regions, HNA gene frequencies in Han and Zhuang populations have their unique characteristics. The data of this study will help us to understand the immunological characteristics of HNA in Han and Zhuang populations.