汉族、壮族人群人类粒细胞抗原HNA-1~5的基因多态性分布

Polymorphism distribution of HNA-1-5 genes in Chinese Han and Zhuang populations

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。

Human neutrophil antigens（HNAs） are involved in a variety of immune diseases, including immunemediated neutropenia, transfusion-related acute lung injury, and refractoriness to granulocyte transfusions. This study performed to investigate the distribution of HNA-1 to-5 genes polymorphism in Chinese Han and Zhuang populations. Total of 647 Chinese Han and 328 Chinese Zhuang unrelated and random healthy people were studied for HNA-1 to-5 genotype polymorphism. An easy PCR-SSP assay was used to detect SNP in HNA systems. In HNA-1system, in contrast to European, South American and Africa Berber, HNA-1a was the most frequent allele in Chinese Han（1a=0.689 3） and Zhuang（1a=0.745 4） populations, and we did not find the HNA-1c allele individual in Han and Zhuang population; in HNA-2,SNP 42C/G, 42 C had the higher frequency in Han（42C=0.697 1） and Zhuang（42C=0.724 1） populations; while HNA-3, HNA-3a and HNA-3b allele frequencies were 0.687 0/0.313 0 and 0.739 3/0.260 7 in Chinese Han and Zhuang populations; in HNA-4, HNA-4b was the rare allele in Han（4b =0.007 0） and Zhuang（4b=0.019 8） populations, and HNA-4bb homozygous individual was not found in this study; HNA-5a and 5b allele frequencies were 0.819 9 and 0.180 1 in Han population, 0.783 5 and 0.216 5 in Zhuang population. Except HNA-2and-5, there was significant difference between Han and Zhuang population at the distribution of HNA-1,-3,-4 gene frequencies. This study showed that, comparing with other population, the HNAs polymorphism in Chinese Han and Zhuang population had their own national characteristics, and the data helps us to know the characteristics of HNAs immunological features in these populations.