RESUMO
OBJECTIVE: To prepare the allelic ladder materials of three STR loci includes D1S1649, D4S1627, D14S1426, and construct a synchronous detection method by multiplex amplification of the three loci. METHODS: Multiplex PCR method, PAGE (polyacrylamide gel electrophoresis) and silver staining were applied to detect 120 unrelated Chinese Han population from Chengdu whose allele and gene frequency distributing of these three loci. The electrophoretic bands of the multiplex PCR of these three loci were clear, no overlap of each alleles were observed, and the results were the same with single-locus test results. The results of the multiplex PCR demonstrated that the genotype of these three STR loci in Chengdu Han population in the genotype distribution met with Hardy-Weinberg equilibrium. 6 alleles (10-15) were detected in D4S1627, 9 alleles(5, 6, 8-14, without 7) were detected in D14S1426, 6 alleles (7-12) were detected in D1S1649. CONCLUSION: The results suggested that the multiplex PCR system of these three loci is of practical value in genetic research and forensic identification.
Assuntos
Alelos , Repetições de Microssatélites/genética , Reação em Cadeia da Polimerase/métodos , Polimorfismo Genético/genética , Sequência de Bases , China/etnologia , Feminino , Genética Forense , Humanos , Masculino , Dados de Sequência MolecularRESUMO
Matrix metalloproteinases (MMPs) play an important role in colorectal cancer (CRC). Accumulated evidence suggests an association between MMP-1, MMP-7, and MMP-9 functional gene polymorphisms with several tumors. The aim of this study was to investigate the association of single-nucleotide polymorphism (SNP) at MMP-1 16071G/2G, MMP-7 181A/G, and MMP-9 279R/Q genes with CRC in the southwest Chinese Han population. The study used 237 CRC patients and 252 normal control matched by age and sex from Sichuan province in China. Samples were genotyped using both polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing. We found significant differences in the genotype and allele frequency of MMP-9 279 R/Q between the case and control group. Individuals who carried MMP-9 279 R allele were more susceptible to CRC (odds ratio = 1.737, 95% confidence interval = 1.323-2.281, p < 0.001). Moreover, the RR genotype of MMP-9 279 R/Q was associated with an increased risk of CRC compared with the QQ genotype (odds ratio = 2.213, 95% confidence interval = 1.248-3.926, p = 0.006). However, there were no significant differences in the genotype and allele frequency of the MMP-1 16071G/2G and MMP-7 181 A/G between the case and control group, and the latter may be due to lower minor allele frequency. The MMP-9 279R/Q alleles and genotypes may be associated with the risk of CRC in Han Chinese.
Assuntos
Povo Asiático/genética , Neoplasias Colorretais/enzimologia , Neoplasias Colorretais/genética , Etnicidade/genética , Predisposição Genética para Doença/genética , Metaloproteinases da Matriz/genética , Polimorfismo Genético , Povo Asiático/etnologia , Neoplasias Colorretais/etnologia , Feminino , Frequência do Gene , Predisposição Genética para Doença/etnologia , Humanos , Masculino , Metaloproteinase 1 da Matriz/genética , Metaloproteinase 7 da Matriz/genética , Metaloproteinase 9 da Matriz/genética , Pessoa de Meia-IdadeRESUMO
Growing evidence suggests that interleukin-8 (IL-8) play pivotal roles in the pathogenesis of cancer through the modulation of tumour immune response or enhanced angiogenesis. A single nucleotide polymorphism, -251A/T, has been identified in the promoter region of the IL-8 gene and has been shown to influence its production. Results from previous studies on the association of -251A/T polymorphism with different cancer types remained contradictory. To assess the effect of -251A/T of IL-8 on cancer susceptibility, we conducted a meta-analysis, up to May 2009, of 14,876 cases with different cancer types and 18,465 controls from 45 published case-control studies. Summary odds ratios and corresponding 95% confidence intervals (CIs) for IL-8 polymorphism and cancer were estimated using fixed- and random-effects models when appropriate. The AA/AT genotypes were associated with a significantly increased risk of nasopharyngeal carcinoma when compared with TT genotype (OR=1.48; 95% CI, 1.16-1.89). Moreover, significantly elevated risks were observed in 'other cancers', and also in African population when population is concerned. Interestingly, when stratified separately by population-based studies and hospital-based studies, significantly elevated risk was found among hospital-based studies (OR=1.21, 95% CI, 1.07-1.37), whereas significantly decreased risk was found among population-based studies (OR=0.90, 95% CI, 0.83-0.97). This meta-analysis shows that IL-8 -251A/T polymorphism may play a complex role in cancer development.
Assuntos
Predisposição Genética para Doença/genética , Interleucina-8/genética , Neoplasias/genética , Feminino , Genótipo , Humanos , Interleucina-8/metabolismo , Masculino , Razão de Chances , Polimorfismo de Nucleotídeo Único , Fatores de RiscoRESUMO
The objective was to study the relationship between the polymorphisms of the DNA repair gene XRCC1 Arg399Gln, Arg194Trp, and Arg280His uterine leiomyoma in a Chinese population. In the case-control study, we compared the XRCC1 gene polymorphism of 136 uterine leiomyoma patients and 140 healthy controls by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results suggested that the genotype Arg/Arg of codon 280 was significantly different from its heterozygote (odds ratio [OR] = 3.633, 95% confidence interval [CI]: 2.147-6.148). In conclusion, the results suggest that polymorphism of XRCC1 Arg280His was associated with the increased risk of uterine leiomyoma in a Chinese population.
