文章收集990 名原发性高血压患者一般资料(性别、年龄、发病年龄、体重指数、家族遗传史等)、血常规、血生化及心脏彩色超声检查结果; 采集入选者的静脉血, 分离并提取白细胞中的DNA, PCR 扩增线粒体tRNAMet, 纯化后测序，分析。得出结果中国汉族原发性高血压患者与线粒体tRNAMet 基因突变有关。

研究概况: 对990名原发性高血压患者进行测序，以以发生tRNAMet 突变的原发性高血压患者为指示病例与未发生突变的患者作为对照病例进行比较。得出突变分布在6 个位点, 分别为A4401G、C4410A、U4418C、A4435G、U4454C 和C4456U。对指示病例进行临床对照和家族分析得出结论。

研究结果:通过对指示病例与对照病例的对比分析得出研究结果，提示线粒体tRNAMet 突变可能会导致其结构和功能的变化, 进而通过干扰血脂代谢、血细胞的稳态以及心脏的结构与功能, 参与了原发性高血压的发生和发展。

参考文献：Institute of Geriatric Cardiology, General Hospital of Chinese PLA, Beijing 100853, China

Abstract: The objective of the present study was to explore the relationship between mitochondrial tRNAMet mutation anddevelopment of essential hypertension in Chinese Han individuals. A total of 990 patients with essential hypertension wereinvolved. The general data (sex, age, body mass index, onset age, and family history) and information on routine blood test,blood biochemical examination, and color Doppler echocardiography of these patients were collected. All subjects underwentvenous blood drawing for seperating white blood cells and DNA extraction. Then, mitochondrial tRNAMet was amplifiedand sequenced after purification. The patients who carried the tRNAMet mutation were taken as the indicative cases and the controls were the patients with essential hypertension who did not carry the mutation. We performed a comparativeanalysis on the routine blood test, blood biochemical examination, color Doppler echocardiography, and other data betweenthe indicative cases and control cases. Among the 990 essential hypertensive patients, there were 8 who carried the tRNAMetmutation, and 6 mutation sites were confirmed, including A4401G, C4410A, U4418C, A4435G, U4454C, and C4456U.Compared with the control cases, the indicative cases developed essential hypertension at earlier ages. The average levels ofhigh density of lipoprotein cholesterol, left ventricular end diastolic diameter, stroke volume, and cardiac index were higherin the indicative cases than in the controls. While the average levels of hemoglobin and left ventricular ejection fractionwere lower in the indicative cases than in the control cases. Among the 8 indicative cases, 5 had maternally inherited hypertension;one had paternally inherited hypertension; and two denied any family history of hypertension. These results indicatedthat the mitochondrial tRNAMet mutations might induce the changes in structure and function, which was involved inthe progress of the essential hypertension by disturbing the blood metabolism, the steady-state of the blood cells, and thecardiac structure and function.