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藏酋猴 Mhc-DPB1基因 exon2的多态性

         

摘要

主要组织相容性复合体(Major histocompatibility complex,MHC)对许多疾病的易感性和抵抗力起着 重要的作用.为了解藏酋猴(Macaca thibetana)的 MHC 基因遗传背景,以促进藏酋猴遗传资源的保护及其在生 物医学研究中的应用,文章采用 PCR 扩增和克隆测序等方法对来自四川地区的 70 个藏酋猴样品的 Mhc-DPB1 基因 exon 2 进行了检测和分析.首次在藏酋猴中获得了 18 个 DPB1 等位基因(Math-DPB1),其中 1 个为假基因(Math- DPB1*01:06N).18 个等位基因中,Math-DPB1*06:01:01 (67.14%) 的阳性检出率最高,其次为 Math-DPB1*01:03:01 (37.14%)、Math-DPB1*09:02(25.71%)和 Math-DPB1*22:01(15.71%).氨基酸序列比对发现,藏酋猴 Math-DPB1 等位基因编码的氨基酸序列中,有 5 个氨基酸残基变异位点表现出物种特异性.不同物种来源的 DPB1 等位基 因系统发生树表明,藏酋猴、猕猴(Macaca mulatta)和食蟹猴(Macaca fascicularis)的 DPB1 等位基因不是以物种 特异性方式聚类,而是种间混聚在一起,并显示出明显的跨物种多态性(Trans-species polymorphism).选择性检 验表明,平衡选择(Balancing selection)在维持 Math-DPB1 基因的多态性中起着重要的作用.%Major histocompatibility complex (MHC) molecules play an important role in the susceptibility and/or resistance to many diseases. To gain an insight into the MHC background of the Tibetan macaques (Macaca thibetana), and thereby facilitate their protection and application in biomedical research, the second exon of the Mhc-DPBl genes from 70 Tibetan macaques in Sichuan Province were characterized by PCR, cloning, sequencing, and statistical analysis. A total of 18 Mhc-DPB1 alleles were identified from Tibetan macaques, of which one (Math-DPB1* 01:06N) was a pseudogene. Math-DPB1*06:01:01 (67.14%) was the most frequent allele in all the 18 alleles detected, followed by Math-DPBl* 01:03:01 (37.14%), Math-DPB 1*09:02 (25.71%), and Math-DPB 1*22:01 (15.71%). The alignment of putative amino acid sequences of the 18 Math-DPBl alleles showed that 5 variable sites were species-specific to Tibetan macaques. A phyloge-netic free constructed using DPB1 alleles in difference species demonstrated that the alleles for Math-DPBl, Mamu-DPB1, and Mafa-DPB1 tended to mix together, rather than cluster into a separate branch in a species-specific fashion, and the Trans-species polymorphism was also observed in the phylogenetic free. Selection analysis revealed that balancing selection may play an important role in maintaining the polymorphism of Math-DPB1 genes.

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