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通过重组近交系的基因组扫描对大鼠血压和心脏质量的数量性状基因座进行定位。

Mapping of quantitative trait loci for blood pressure and cardiac mass in the rat by genome scanning of recombinant inbred strains.

作者信息

Pravenec M, Gauguier D, Schott J J, Buard J, Kren V, Bila V, Szpirer C, Szpirer J, Wang J M, Huang H

机构信息

Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.

出版信息

J Clin Invest. 1995 Oct;96(4):1973-8. doi: 10.1172/JCI118244.

Abstract

In the HXB and BXH recombinant inbred strains derived from the spontaneously hypertensive rat and the normotensive Brown Norway rat, we determined the strain distribution patterns of 500 genetic markers to scan the rodent genome for quantitative trait loci regulating cardiac mass and blood pressure. The markers spanned approximately 1,139 cM of the genome and were tested for correlations with left ventricular mass adjusted for body weight, and with systolic, diastolic, and mean arterial pressures. The marker for the dopamine 1A receptor (Drd1a) on chromosome 17 showed the strongest correlation with left ventricular heart weight (P = .00038, r = -0.59) and the relationship to heart weight was independent of blood pressure. The markers showing the strongest correlations with systolic, diastolic, and mean arterial pressure were D19Mit7 on chromosome 19 (P = .0012, r = .55), D2N35 on chromosome 2 (P = .0008, r = .56), and Il6 on chromosome 4 (P = .0018, r = .53), respectively. These studies demonstrate that the HXB and BXH strains can be effectively used for genome scanning studies of complex traits and have revealed several chromosome regions that may be involved in the genetic control of blood pressure and cardiac mass in the rat.

摘要

在源自自发性高血压大鼠和正常血压的棕色挪威大鼠的HXB和BXH重组近交系中,我们确定了500个遗传标记的品系分布模式,以扫描啮齿动物基因组寻找调节心脏质量和血压的数量性状基因座。这些标记覆盖了基因组约1139厘摩的范围,并针对与体重校正后的左心室质量以及收缩压、舒张压和平均动脉压的相关性进行了测试。位于17号染色体上的多巴胺1A受体(Drd1a)标记与左心室心脏重量的相关性最强(P = 0.00038,r = -0.59),且与心脏重量的关系独立于血压。与收缩压、舒张压和平均动脉压相关性最强的标记分别是19号染色体上的D19Mit7(P = 0.0012,r = 0.55)、2号染色体上的D2N35(P = 0.0008,r = 0.56)和4号染色体上的Il6(P = 0.0018,r = 0.53)。这些研究表明,HXB和BXH品系可有效地用于复杂性状的基因组扫描研究,并揭示了大鼠中可能参与血压和心脏质量遗传控制的几个染色体区域。

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