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OBJECTIVE To assess the association of SLC12A3 and SCNN1B gene polymorphisms (rs11643718 and rs12447134) with essential hypertension among ethnic Koreans from Mudanjiang, China. METHODS For 204 patients with essential hypertension and 186 healthy controls, the genotypes of rs11643718 and rs12447134 loci were determined with an improved multiplex ligase detection reaction (iMLDR) method. RESULTS Allelic and genotypic frequencies of rs11643718 of SLC12A3 gene are associated with the onset of disease hypertension (P <0.05) as well as systolic blood pressure (P < 0.01, under a recessive model). No association was found between rs12447134 of SCNN1B gene with the onset of disease (P > 0.05) but diastolic blood pressure (P < 0.05, under a recessive model). CONCLUSION The polymorphisms of rs11643718 locus is associated with the susceptibility for essential hypertension among ethnic Koreans from Mudanjiang area and can be used as a predictor for the disease.
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BACKGROUND: Many scholars have reported the study of genetic polymorphism of short tandem repeat loci in different countries, areas, and population. But what is the genetic polymorphism of short tandem repeats loci of Chinese Korean is still unknown.OBJECTIVE:To investigate the distribution of the genetic polymorphism of D16S539 D7S820, D13S317, CSF1PO, TPOX and TH01 in Chinese Korean, obtain the crowded genetic data of corresponding polymorphism loci.DESIGN: Single sample observation.SETTING: Staff Room of Biology, Department of Detecting and Analyzing DNA, Mudanjiang Medical College.MATERIALS: Periphoral blood samples from 100 unrelated individuals in Korean of Mudanjiang were chosen from January 2001 to February 2001.METHODS: Genotype detection was performed in one hundred unrelated individuals with polymerase chain reaction amplification fragment length polymorphism analysis.MAIN OUTCOME MEASURES: Sample genotype of D16S539,D7S820, D13S317, CSF1PO, TPOX, THO1 6 short tandem repeat loci.TH01 locus.CONCLUSION: The genotypes distributions of the 6 short tandem repeat (STR) in Chinese Korean met Hardy-Weinberg equilibrium, and have higher heterozygosities. The gene frequency and other data obtained can provide the basis for studying the crowded genetics of Chinese Korean.
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<p><b>OBJECTIVE</b>To analyze genetic polymorphism of D16S539 D7S820 D13S317 CSF1PO TPOX and TH01 in Chinese Korean.</p><p><b>METHODS</b>One hundred unrelated individuals were analyzed by PCR amplification fragment length polymorphism analysis.</p><p><b>RESULTS</b>Six alleles and 18 genotypes of D16S539 locus, 7 alleles and 22 genotypes of D7S820 locus, 7 alleles and 23 genotypes of D13S317 locus, 6 alleles and 16 genotypes of CSF1PO locus, 6 alleles and 11 genotypes of TPOX locus, 5 alleles and 12 genotypes of TH01 locus.</p><p><b>CONCLUSION</b>The genotype distribution of all the 6 short tandem repeat(STR) in Chinese Korean met Hardy-Weinberg equilibrium, and have higher heterozygosities. The data obtained can be used in human identity and paternity testing, and in other genetic researches and population investigation.</p>
