中文摘要：

目的探讨血细胞的VHL（Von Hippel-Lindau）基因拷贝数变化与高原红细胞增多症的易感性关系。方法分别取年龄、职业等相匹配的高原红细胞增多症患者（n=20）、健康对照组（n=20）的静脉血2 ml/人,提取DNA,通过定量PCR方法（染料法）检测血细胞的VHL基因的相对拷贝数。结果高原红细胞增多症病例组的VHL基因拷贝数显著低于对照组（P〈0.05）。结论高原红细胞增多症患者的VHL基因的拷贝数较低,与高原红细胞增多症的发病相关。

英文摘要：

Objective To investigate the relationship between the variation of Von Hippel-Lindau（VHL）copy number and the susceptibility of plateau erythrocythemia（PE）Methods 2 ml of venous blood samples from 20 PE patients and 20 healthy controls with matched age,profession and so on were collected for DNA extraction.Then VHL copy number of blood cells was detected by real-time PCR（dye method）.Results The VHL copy number in PE patients was significantly lower than that in healthy controls（P0.05）.Conclusion VHL copy number appears to be relatively low in PE patients,which may be related to the pathogenesis of PE.