Abstract: To analyze the relationship between EPO gene polymorphism and altitude hypoxia adaptation in Tashkurgan sheep in Pamir Plateau of Xinjiang, molecular genetic characteristics, SNP, haplotype composition and population genetic characteristics of part of EPO gene (1 382 bp) were analyzed by PCR, direct sequencing and bioinformatics methods. Seven haplotypes and five SNP sites were obtained by analyzing EPO nucleotide sequences of 39 Tashkurgan sheep, among which Hap_3 was the dominant haplotype (64%), SNP/C1991A may be related to the molecular mechanism of hypoxia adaptation in sheep. The results showed that EPO gene was very conservative, mutations occurred only in the noncoding region and intron region. It was speculated that EPO might be involved in hypoxia adaptation at the level of gene expression or expression regulation rather than the sequence itself. The results indicated that EPO gene could be used as a candidate gene for plateau hypoxia adaptive evolution research and molecular assisted breeding of sheep. It will provide basic data for genetic improvement in Tashkurgan sheep.

Key words: erythropoietin, plateau hypoxia, polymorphism, adaptive