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Polymorphsim Analysis Of The Regulation Region Of Human Tissue Kallikrein Gene Of Chinese Han Race And The Relationship With Essential Hypertension

Posted on:2005-10-24Degree:MasterType:Thesis
Country:ChinaCandidate:S X ZhouFull Text:PDF
GTID:2144360152955379Subject:Biomedical engineering
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Objective The tissue kallikrein-kinin system has long been implicated in blood pressure regulation by genetic and physiological studies. Human tissue kallikrein gene polymorphisms were identified by Qing Song et al in the promoter region by polymerse chain reaction(PCR) and DNA sequencing in 1997.One polymorphic region was identified between nucleotides -121 and -133 with respect to the transcription initiation site of the tissue kallikrein gene. Ten alleles with length and nucleotide sequence variations were detected among Caucasians, African-Americans, and Asians. The promoter activity was analyzed in human embryonic kidney 293 cells by transient transfection assays, while alleles D and H had shown significantly lower promoter activities than other alleles. In this study, we will detect the distribution of this SNP in Chinese Hans, and determine whether it is associated with essential hypertension.Methods Human genome was extracted from peripheral blood of 100 patients with EH and 100 healthy subjects. A 180-bp fragment containing the polymorphic region amplified by PCR using human genome as the template, was analyzed by hybridizations with ten olignucleotide probes. Results A. B, C, D, E, H, K, P alleles were detected in Chinese Hans. Thefrequencies of all the alleles were A 16.5%, B 15%, C7%, D 13.5%, E 7%, H 28.5 %, K 10%, P2.5% in patients , while A23%, B 21%, C 9.5%, D 3.5%, E 9%, H 12.5%, K 14.5%, P 7% in healthy subjects. There is statistical difference between the two groups. And there is also statistical difference of gene type between the two groups.Conclusion There are A, B, C, D, E, H, K. P eight types of polymorphisms in Chinese Hans's tissue kallikrein gene. The distributions of the eight alleles are statistically different between the EH patients group and healthy subject group, with D and H alleles especially higher in patients. These results suggest that the identified gene variants be associate with essential hypertension.
Keywords/Search Tags:Essential hypertension, Tissue kallikrein gene, Single-nucleotide polymorphism
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