| 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 in the promoter region by polymerase 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 the 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 in 40 patients with EH and 40 healthy subjects. A 180-bp fragment containing the polymorphic region amplified by PCR using humangenome as the template, was analyzed by hybridizations with ten oligonucleotide probes.Results Only A, B, H, K alleles were detected in Chinese Hans. The frequencies of A, B, H, K alleles were respectively 45%, 37.5%, 17.5% and 0% in healthy subjects, while were 45%, 20%, 33.75% and 1.25% in patients. The frequencies of AB, AH, BH, AA, HH, BK were 20%, 35%, 17.5%, 17.5%, 7.5% and 2.5% respectively in patients, while the frequencies of AB, AH, BH, AA, BB, HH were 50%, 5%, 15%, 17.5%, 5% and 7.5% in healthy, with statistical difference(P<0.01) between two groups.Conclusion A, B, H and K alleles are four types of polymorphisms in Chinese Hans's tissue kallikrein gene. The distributions of the four alleles are statistical difference between patients and healthy groups, with H allele especially higher in patients. These results suggest that the identified gene variants be associated with essential hypertension.
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