XU Jin，YANG Ying-zhong，Li Yong-zhen，TANG Feng，WANG Zhan

    (1.Department of the Basic Medical Sciences，Qinghai University Medical College，Qinghai 810001，China；2.Research Center for High Altitude Medical Sciences，Qinghai University Medical College，Qinghai 810001，China； 3.Department of Biomedical Engineering，Tsinghua University，Beijing 100000，China)

    TherelationshipbetweenPolymorphismsofPTENGeneandHighAltitudePolycythemiainTibetansattheQinghai-TibetanPlateau#

    XU Jin1，YANG Ying-zhong2，Li Yong-zhen1，TANG Feng2，WANG Zhan3※

    (1.Department of the Basic Medical Sciences，Qinghai University Medical College，Qinghai 810001，China；2.Research Center for High Altitude Medical Sciences，Qinghai University Medical College，Qinghai 810001，China； 3.Department of Biomedical Engineering，Tsinghua University，Beijing 100000，China)

    ObjectivePTENgenewere identified that exhibit evidence of local positive selection of Tibetan adaptation by previous works.Although Tibetans adapt to high altitude environments through a lower blood hemoglobin concentration compared to other populations，some Tibetans still develop high altitude polycythemia(HAPC).To explore whether the polymorphisms of Phosphatase and tensin homolog(PTEN)gene are associated with the susceptibility to high altitude polycythemia(HAPC)in Tibetans at the Qinghai-Tibetan Plateau.MethodsWe enrolled 63 HAPC-p(HAPC patient)and 131 HAPC-r(HAPC resistant)from the Yushu area in Qinghai province where the altitude is over 3500 m above sea level.Blood samples were collected from each of the HAPC-p and HAPC-r groups.Information about physiological phenotypes was obtained via fieldwork investigation.Seven SNPs of thePTENgene(rs1234212 ......