藏族高原适应性相关研究及法医学应用展望

Review on Association Study of Tibetan High-altitude Adaptation and Its Forensic Applicability

藏族居于高海拔地区,近年来通过关于藏族高原适应性的研究发现,藏族与其他人群的高原适应机制不同,其原因在于基因EPAS1和EGLN1上存在大量的频率差异较大的单核苷酸多态性(SNP)位点。本文从生理机能变化、高原适应性基因以及基因中SNP位点三个层面对藏族的高原适应性进行综述,并展望高原适应性相关的SNPs应用于法医学及鉴定的前景。

Tibetan people live in Himalayan plateau southwest of China,having well adapted to the extreme environment of such a high altitude.Recent studies showed that several candidate genes have led the Tibetan people to possess different mechanism from lowland-living Chinese to adapt to the high-altitude hypoxia environment.Two hypoxia-related genes,EPAS1(endothelial PAS domain protein1;also known as HIF2a)and EGLN1(egl nine homolog1;also known as HIF prolylhydroxylase2,PHD2),have been identified to associate with the high-altitude hypoxia adaptation such that a large quantity of frequency-diverse SNPs have been found among them.In this paper,Tibetan people’s adaptation to high-altitude is reviewed from three aspects:their physiological characteristics and functional conversion,high-altitude adaptation genes,and the SNPs in EPAS1and EGLN1.Accordingly,the forensic feasibility of high-altitude adaptation-associated SNPs is thereby discussed.