滇藏线4个海拔马群体低氧适应的群体基因组学研究

藏马既是高原重要畜种，也是低氧适应研究的绝好材料。连续海拔种群受到不同强度的低氧选择，群体结构发生微进化以趋适应。本研究拟选择茶马古道滇藏线连续海拔分布的普洱本地马（800米左右）、腾冲马（1500米左右）、丽江马（2500米左右）和藏马（3000米以上）共4个群体各10匹为材料，一方面进行40匹马的基因组重测序（5层），通过群体遗传学分析挖掘低氧正选择基因；另一方面，通过受选择基因区域的靶向捕获测序，全面筛选SNP，进行单倍型分析寻找标签SNP（TagSNP）；最后，通过MassArray进行大样本中通量TagSNP分型，结合已经测定的生理指标，剖析SNP分子遗传效应，并对基因和蛋白结构进行注释和功能预测，深入揭示藏马低氧适应的遗传机制。发掘低氧正选择基因和功能位点，可以为高原低氧适应研究、低氧相关疾病研究提供分子基础资料，同时可大力提升滇藏线珍稀畜种资源价值。

Tibetan horse, indigenous to the plateau, is an important animal resource and an excellent material for hypoxia adaptation studies. Populations distributed at continuous altitudes suffer from different intensities of hypoxia selection, so microevolution happened in population structure to adapt hypoxia. Total four groups (10 each), including Pu'er native horse (800m), Tengchong horse (1500m), Lijiang horse (2500m) and Tibetan horse (3000m), are as research materials. On one hand, resequencing 40 horses (5×) to explore hypoxia adaptation of positive selection genes and loci by population genetics analysis. On the other hand, perform targeted sequencing in selected genes regions for screening SNP, and in advance to find TagSNP by haplotype analysis. Finally, type TagSNP by MassArray with large scale and flux. Combined with physiological indicators which have been previously determined, molecular genetic analysis of SNP effects and gene annotation and protein structure and function prediction will further reveal the genetic mechanisms of hypoxic adaptation in Tibetan horse. Exploring hypoxia positive selection genes and functional sites can provide information on molecular basis of adaptation to high altitude and hypoxia-related disease; it can also greatly promote the value of rare breed resource along the Yunnan-Tibet Road.