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目的青藏高原藏族通过血液中较低的血红蛋白浓度来很好地适应高海拔环境,但仍有部分藏族罹患高原红细胞增多症(HAPC)。本研究探讨PTEN基因(gene of phosphate and tension homology deleted on chromsome ten,PTEN)多态性是否与藏族高原红细胞增多症(HAPC)相关。方法将来自青海海拔超过3 500米的玉树地区63位HAPC患者(HAPC-p)和131位健康者(HAPC-r)作对照。用Sequenom Mass ARRAY法对PTEN基因的七个SNP位点(rs1234212,rs1234213,rs1234219,rs2299939,rs2299941,rs532678和rs555895)进行基因分型检测。结果HAPC-p组和HAPC-r组相比,血氧饱和度明显降低,而Hb和HCT明显升高。PTEN基因被测的所有SNP位点的基因型和等位基因分布频率无显著差异。结论 PTEN基因多态性与青藏高原藏族高原红细胞增多症易感性无关。
Purpose Tibetans in Tibetan Plateau are well adapted to high altitude environment through lower hemoglobin concentration in the blood, but some Tibetans still suffer from high altitude polycythemia (HAPC). This study was aimed to investigate whether the gene polymorphism of PTEN gene is related to Tibetan Plateau Polytope (HAPC). Methods Sixty-three HAPC patients (HAPC-p) and 131 healthy volunteers (HAPC-r) from Yushu area, Qinghai Province, whose elevation exceeded 3 500 m were used as controls. The seven SNP sites (rs1234212, rs1234213, rs1234219, rs2299939, rs2299941, rs532678 and rs555895) of the PTEN gene were genotyped by Sequenom Mass ARRAY. Results Compared with HAPC-r group, the oxygen saturation of HAPC-p group was significantly decreased, while the Hb and HCT levels were significantly increased. There was no significant difference in the genotype and allele frequencies of all the SNPs detected in the PTEN gene. Conclusion The polymorphism of PTEN gene is not associated with susceptibility to Tibetan Plateau polycythemia in Tibetan Plateau.