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Angiotensin Gene And The Renin Gene Polymorphism And Essential Hypertension Research

Posted on:2003-10-10Degree:DoctorType:Dissertation
Country:ChinaCandidate:T C LiuFull Text:PDF
GTID:1110360185468719Subject:Biochemistry and Molecular Biology
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Essential hypertension is a complex disease resulted from the interaction of multiple genetic, environmental and demographic factors. The study of epidemiological surveys indicated that up to 40% of human blood pressure variation is genetically determined. There are a variety of approaches to identify and analyze genes related to essential hypertension. These include linkage studies(family studies), association studies, and experimental animal models. However, so far there is no gene proven to be related to essential hypertension in all groups which have been studied.The renin-angiotensin system plays a central role in the regulation of blood pressure and sodium balance. Regarding the results of our preliminary genome scan, we decided to systematically screen polymorphisms in the angiotensinogen(AGT) promoter and enhancer regions, and in the intron A of the renin gene in Chinese Huan population, using polymerase chain reaction - single -strand conformation polymorphism(PCR-SSCP), denaturing or nondenaturing polyacrylamide gel electrophoresis, PCR product direct sequencing or cloning -sequencing.In recent years, polymorphisms of the human angiotensinogen gene have received the most attention, of which, T235M, M174T and A-6G have been confirmed to be associated with essential hypertension in multiple poplulations. In our present study, we identified three novel single nucleotide polymoyphisms(SNPs): -1179A/G (G allele frequency: 0.199, +2054C/A(A allele frequency: 0.157) and +2127C/T(T allele frequency: 0.157). During analyzing-1074G/T by PCR-SSCP, we also observed electrophoretic mobility shifts of dsDNA, corresponding to the pattern of SSCP, PCR products were sequenced on both orientations, -1179A/G was detected, and related sequences has been submitted to GenBank(GenBank Accession: AF424741). -1179A/G, -1074G/T, -793G/A and -218G/A were in absolute linkage disequilibrium with each other...
Keywords/Search Tags:Polymorphism
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