血细胞线粒体DNA拷贝数变化与高原红细胞增多症易感性的关联研究

The association between mitochondrial DNA copy number variation and high altitude polycythemia

目的探讨血细胞线粒体DNA(mtDNA)拷贝数的变化与高原红细胞增多症易感性的关联性。方法分别采集年龄、职业等相匹配的高原红细胞增多症患者37例及对照组42例的静脉血2 mL,提取总DNA,通过定量PCR法(染料法)检测白细胞的mtDNA相对拷贝数。结果高原红细胞增多症患者中,mtDNA拷贝数显著低于对照组(P<0.05)。通过线性回归分析显示,在对照组中,随血红蛋白浓度的增加mtDNA拷贝数增加(P<0.05);然而在高原红细胞增多症病例组中,随着血红蛋白浓度的增加,mtDNA拷贝数降低(P<0.05)。结论高原红细胞增多症患者中,mtDNA拷贝数较低,可能作为该病的分子标记。

Objective To investigate mitochondrial DNA（mtDNA） copy number variation in high altitude polycythemia. Methods The relative copy numbers of mtDNA were detected in the high altitude polycythemia（n= 37） and controls（n=42） by the real time PCR（SYBR）. Results mtDNA copy number in the case group was significantly lower than the control group （P〈0.05）. Linear regression analysis showed that Hb in the control group value with the increase in mtDNA copy number increase （P〈0.05） ;however,in the case group with the increase of Hb values lower mtDNA copy number（P〈0.05）. Conclusion The patients in the high altitude polyeythemia with lower mtDNA copy number may be used as genetics markers.