血管紧张素转化酶基因I/D多态性与藏、汉民族高原低氧适应的关系

目的 分析血管紧张素转化酶(ACE)基因插入/缺失(I/D)多态性在世居高原藏族与汉族人群中的基因分布频率及与肺动脉压、动脉血氧分压、血浆ACE水平的关系,探讨藏族人群高原低氧适应的机制.方法 筛选世居高原的青海地区藏族、汉族健康男性青年各30例,采用多聚酶链反应(PCR)法检测两组人群ACE基因的I/D多态性；用动脉血气分析仪测动脉血氧分压、彩色多普勒超声仪测定肺动脉压；用酶联免疫吸附试验测血浆ACE水平.结果 藏、汉两组ACE基因的II、ID、DD三种基因型的频率为0.700、0.233、0.067和0.300、0.467、0.233,差异有显著性(x2=9.725,P=0.006)；两组I/D等位基因频率分别为0.816、0.184和0.534、0.466,差异有显著性(x2=10.227,P=0.001)；两组人群肺动脉压差异无统计学意义(P=0.41)；动脉血氧分压比较差异无统计学意义(P=0.56)；血浆ACE水平差异有统计学意义(P=0.011).结论 动脉血氧分压、肺动脉收缩压与ACE基因I/D多态性无相关性.ACE基因L/D多态性在藏、汉民族间存在差异,致血浆ACE水平差异,这种差异与藏族人群适应高原低氧可能相关.

THE RELATIONSHIP BETWEEN THE INSERTION/DELETION POLYMORPHISM OF THE ANGIOTENSION-CONVERTING ENZYME GENE AND ADAPTATION TO HIGH ALTITUDE IN TIBETAN AND HAN NATIONALITIES

Objective To Analyze the insertion/deletion(I/D)polymorphism frequency distribution in the Angiotension-Converting Enzyme(ACE)of Tibetan and Han nationalities and investigate the relevance between pulmonary artery pressure,blood oxygen partial pressure in order to explore the mechanism of Tibetan adaptation to high altitude.Methods 30 healthy Tibetan and 30 healthy Han volunteers were selected.The age was 19-21 years old.The gene polymorphism of ACE was detected by polymerase chain reaction.The blood oxygen partial pressure value had gotted by Arterial blood gas analyzer.Color doppler ultrasound analyzer was used to measure pulmonary artery pressure.ELISA test detected the ACE level in the plasma.Results The three genotypes II、ID and DD of ACE were detected both in the experimental group and the control group,they were II、ID and DD.The frequency of the three genotype was 0.700,0.233 and 0.067,respectively in experimental group,while the control group were 0.300,0.467 and 0.233,respectively.The genotype of ACE was significantly different between the two group(x~2=9.725,P=0.006);The I/D allele frequency were 0.816,0.184 and 0.534,0.466,respectively,between the two group.which was significant difference(x~2=10.227,P=0.001).The two groups of pulmonary artery pressure were no significant difference(P=0.41);futhermore,the Artery blood oxygen partial pressure in both groups were not significant different(P=0.56).The plasma ACE have shown statistical significant(P=0.011).Conclusion There aren′t correlation between the ACE gene I/D polymorphism and Arterial blood oxygen,oxygen partial pressure and pulmonary artery pressure.The insertion/deletion(I/D)polymorphism of ACE gene have been different in the Tibetan and Han nationalites.The level of ACE in plasma also have been different between Tibetan and Han.The difference may be related to the Tibetan adaptation to high altitude hypoxia.