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Restriction-fragment Length Polymorphism (restriction-fragment + length_polymorphism)
Selected AbstractsStudy of V1a vasopressin receptor gene single nucleotide polymorphisms in platelet vasopressin responsivenessJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 3 2006Kazi N. Hasan Abstract There is a significant heterogeneity among individuals in terms of platelet aggregation response to arginine vasopressin (AVP). The aim of this study was to evaluate whether four single nucleotide polymorphisms (SNPs) in the promoter region of vasopressin V1a receptor gene (V1aR) could be used as genetic markers for divergent platelet aggregation response to AVP. Seventeen of 33 subjects showed more than 60% of maximum platelet aggregation and were classified as responders. Sixteen were classified as nonresponders because they had less than 30% aggregation. In a preliminary study, V1aR gene sequences were determined in two responders and two nonresponders. We found four SNPs in the promoter region of the V1aR gene: ,6951G/A, ,4112A/T, ,3860T/C, and ,242C/T. In all 33 subjects the genotypes of four SNPs were determined using either polymerase chain reaction (PCR) with allele-specific primers or PCR followed by restriction-fragment length polymorphism (RFLP). There were no differences in the AVP-induced aggregation between the subjects with and without variant alleles of each four SNPs. The genotype frequencies of four SNPs of V1aR were almost identical between AVP responders and nonresponders. These results suggest that the four SNPs in the promoter region of the V1aR gene may not be useful as genetic markers for platelet aggregation heterogeneity. J. Clin. Lab. Anal. 20:87,92, 2006. © 2006 Wiley-Liss, Inc. [source] Role of hepatitis B virus genotypes and quantitative HBV DNA in metastasis and recurrence of hepatocellular carcinomaJOURNAL OF MEDICAL VIROLOGY, Issue 4 2008Yuehua Huang Abstract Identification of risk factors for recurrence and metastasis of HCC is important for the prognosis of HCC surveillance in chronic HBV infection. In this article, 125 HCC patients recruited were followed up prospectively for tumor metastasis and recurrence for a median of 104 (10,130) weeks. HBV DNA level was detected by LightCycler-based real-time fluorescence quantitative polymerase chain reaction-restriction system. HBV genotypes were determined by using PCR restriction-fragment length polymorphism. BCP and PC mutations were performed by PCR and direct sequencing of amplified products. Among 125 HCC patients, 19 patients were excluded because of the lack of follow-up data and the remaining 106 patients were followed up of 2 years and entered into analysis. Sixty-nine patients had tumor metastasis or recurrence during the follow-up and the cumulative probability of HCC metastasis or recurrence was 65.1%. On multivariate analysis, genotype C and HBV DNA level were the risk factors for HCC recurrence or metastasis. The incidence of recurrence or metastasis increased with baseline HBV DNA level in a dose-response relationship ranging from 22% for HBV DNA level of less than 3 log10 copies/ml to 80% for HBV DNA level of 5 log10 copies/ml or greater (P,=,0.012). Fifty-seven (74.0%) and 12 (41.4%) patients had metastasis or recurrence in patients with genotype C and B, respectively. The adjusted OR of recurrence or metastasis for genotype C compared with genotype B was 9.755 (P,=,0.009). In conclusion, elevated HBV DNA level and genotype C are strong risk predictors of HCC metastasis or recurrence. J. Med. Virol. 80:591,597, 2008. © 2008 Wiley-Liss, Inc. [source] Polymorphisms in vitamin D receptor, osteopontin, insulin-like growth factor 1 and insulin, and their associations with bone, egg and growth traits in a layer , broiler cross in chickensANIMAL GENETICS, Issue 3 2006A. K. Bennett Summary Bone strength traits in chickens are gaining importance due to economic losses and welfare concerns associated with bone fractures and other abnormalities. A chicken F2 resource population was generated from layer and broiler genetic lines, and traits relating to bone strength, egg production, egg quality and growth rate were measured in approximately 500 F2 hens. Four biological candidate genes (vitamin D receptor, VDR; insulin, INS; insulin-like growth factor 1, IGF1; and osteopontin, SPP1) were selected for investigation. Single nucleotide polymorphisms (SNPs) were identified for each candidate gene by comparing sequences between grandparent lines. Polymerase chain reaction restriction-fragment length polymorphism or SNaPshot assays were developed to genotype the F2 population and to evaluate associations between each SNP genotype and multiple phenotypes. Significant associations (P < 0.0125) were found between VDR and bone mineral content of the humerus at 35 weeks of age; between IGF1 and SPP1 and 5-week body weight; and between INS and 55-week body weight. [source] Polymorphism of matrix metalloproteinase genes (MMP1 and MMP3) in patients with varicose veinsCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 5 2009M. Kurzawski Summary Background., Several risk factors for varicose veins have been identified: female gender, combined with obesity and pregnancy, occupations requiring standing for long periods, sedentary lifestyle, history of deep-vein thrombosis and family history. However, no specific gene variants related to a wide prevalence of varicosities in general population have been identified. Extracellular matrix composition, predominantly maintained by matrix metalloproteinases (MMPs), may affect the vein-wall structure, which may lead to dilation of vessels and cause varicosities. Aims., MMP-1 (tissue collagenase I) and MMP-3 (stromelysin I) expression was found to be raised in varicose veins compared with normal vessels. Therefore, a study was conducted to evaluate a potential association between MMP1 and MMP3 promoter polymorphisms and a risk of varicose veins. Methods., Genotyping for the presence of the polymorphisms ,1607dupG (rs1799750) in MMP1 and ,1171dupA (rs3025058) in the MMP3 promoter region was performed using PCR and restriction-fragment length polymorphism assays in a group of 109 patients diagnosed with varicose veins and 112 healthy controls. Results., The frequencies of the MMP1 and MMP3 alleles (minor allele frequency 0.440 in patients vs. 0.451 in the controls for MMP1,1607*G and 0.514 vs. 0.469 for MMP3,1171*dupA, respectively) and of genotypes did not differ significantly between patients and controls. Conclusions., The MMP1,1607dupG and MMP3,1171dupA promoter polymorphisms are not valuable markers of susceptibility for varicose veins. 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