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文章收集990 名原發(fā)性高血壓患者一般資料(性別、年齡、發(fā)病年齡、體重指數(shù)、家族遺傳史等)、血常規(guī)、血生化及心臟彩色超聲檢查結(jié)果; 采集入選者的靜脈血, 分離并提取白細(xì)胞中的DNA, PCR 擴(kuò)增線粒體tRNAMet, 純化后測序，分析。得出結(jié)果中國漢族原發(fā)性高血壓患者與線粒體tRNAMet 基因突變有關(guān)。 研究概況: 對990名原發(fā)性高血壓患者進(jìn)行測序，以以發(fā)生tRNAMet 突變的原發(fā)性高血壓患者為指示病例與未發(fā)生突變的患者作為對照病例進(jìn)行比較。得出突變分布在6 個(gè)位點(diǎn), 分別為A4401G、C4410A、U4418C、A4435G、U4454C 和C4456U。對指示病例進(jìn)行臨床對照和家族分析得出結(jié)論。 研究結(jié)果:通過對指示病例與對照病例的對比分析得出研究結(jié)果，提示線粒體tRNAMet 突變可能會(huì)導(dǎo)致其結(jié)構(gòu)和功能的變化, 進(jìn)而通過干擾血脂代謝、血細(xì)胞的穩(wěn)態(tài)以及心臟的結(jié)構(gòu)與功能, 參與了原發(fā)性高血壓的發(fā)生和發(fā)展。 參考文獻(xiàn)：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. |
