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Restriction Fragment Length Polymorphism Method (restriction + fragment_length_polymorphism_method)
Selected AbstractsSingle-nucleotide polymorphisms and mRNA expression for melatonin synthesis rate-limiting enzyme in recurrent depressive disorderJOURNAL OF PINEAL RESEARCH, Issue 4 2010Piotr Ga, ecki Abstract:, Depressive disorder (DD) is characterised by disturbances in blood melatonin concentration. It is well known that melatonin is involved in the control of circadian rhythms, sleep included. The use of melatonin and its analogues has been found to be effective in depression therapy. Melatonin synthesis is a multistage process, where the last stage is catalysed by acetylserotonin methyltransferase (ASMT), the reported rate-limiting melatonin synthesis enzyme. Taking into account the significance of genetic factors in depression development, the gene for ASMT may become an interesting focus for studies in patients with recurrent DD. The goal of the study was to evaluate two single-nucleotide polymorphisms (SNPs) (rs4446909; rs5989681) of the ASMT gene, as well as mRNA expression for ASMT in recurrent DD-affected patients. We genotyped two polymorphisms in a group of 181 recurrent DD patients and in 149 control subjects. The study was performed using the polymerase chain reaction/restriction fragment length polymorphism method. The distribution of genotypes in both studied SNPs in the ASMT gene differed significantly between DD and healthy subjects. The presence of AA genotype of rs4446909 polymorphism and of GG genotype of rs5989681 polymorphism was associated with lower risk for having recurrent DD. In turn, patients with depression were characterised by reduced mRNA expression for ASMT. In addition, ASMT transcript level in both recurrent DD patients and in healthy subjects depended significantly on genotype distributions in both polymorphisms. In conclusion, our results suggest the ASMT gene as a susceptibility gene for recurrent DD. [source] The role and frequency of glutathione s-transferase P1 polymorphism in Iranian patients affected with reflux esophagitisDISEASES OF THE ESOPHAGUS, Issue 7 2010N. Zendehdel SUMMARY Reflux esophagitis is a common complication of the gastroesophageal reflux disease. Glutathione s-transferases (GSTs) have important role in the protection of cells from the products of oxidative stress. GSTP1*B allele has a correlation with susceptibility to several diseases. In this case-control study, the role and frequency of GSTP1 polymorphism was evaluated in Iranian patients with erosive reflux esophagitis. Seventy patients with erosive reflux esophagitis and 75 normal individuals were enrolled in this study. The grade of esophagitis was determined via endoscopy. DNA was extracted from venous blood of each subject using the salting out method. GSTP1 genetic polymorphisms were detected using the polymerase chain reaction restriction fragment length polymorphism method. There was a significant difference in GSTP1 genotype frequency between patients and normal groups (P= 0.006). Also, in the patient group, the grade B of esophagitis was significantly associated with variant GSTP1 genotype (P= 0.028). The rate of throat pain symptom was higher in the no-variant group (P < 0.036). The GSTP1*B allele frequency in Iranian normal groups is similar to Orientals. Reflux esophagitis are more commonly found in variant (*B/*B and *A/*B) GSTP1 genotypes. In addition, GSTP1 polymorphism is correlated with a higher grade of esophagitis. [source] Genetic polymorphisms of drug-metabolizing enzymes CYP2D6, CYP2C9, CYP2C19 and CYP3A5 in the Greek populationFUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 4 2007Kostas Arvanitidis Abstract The aim of the present study was to determine the prevalence of the most common allelic variants of the polymorphic cytochrome P450 (CYP) enzymes CYP2D6, CYP2C9, CYP2C19 and CYP3A5 and to predict the genotype frequency for each polymorphism in the Greek population. DNA isolated from peripheral blood samples derived from 283 non-related Greek ethnic subjects was used to determine the frequency of CYP2D6*3, CYP2D6*4, CYP2C9*2, CYP2C9*3 and CYP3A5*3 allelic variants by the polymerase chain reaction (PCR)-restriction fragment length polymorphism method, CYP2C19*2 and CYP2C19*3 with allelic specific amplification (PCR-ASA), and CYP2D6*2 (gene duplications) by long PCR analysis. The allelic frequencies (out of a total of 566 alleles) for CYP2D6*3 and CYP2D6*4, were 2.3% and 17.8%, respectively, while gene duplications (CYP2D6*2) were found in 7.4% of the subjects tested. For CYP2C9*2 and CYP2C9*3 polymorphisms the allelic frequencies were 12.9% and 8.13% respectively. For CYP2C19, the *2 polymorphism was present at an allelic frequency of 13.1%, while no subjects were found carrying the CYP2C19*3 allele. Finally, the CYP3A5*3 allele was abundantly present in the Greek population with an allelic frequency of 94.4%. Overall our results show that the frequencies of the common defective allelic variants of CYP2C9, CYP2C19 and CYP3A5 in Greek subjects are similar to those reported for several other Caucasian populations. Finally, a high prevalence of CYP2D6 gene duplication among Greeks was found, a finding that strengthens the idea that a South/North gradient exists in the occurrence of CYP2D6 ultrarapid metabolizers in European populations. [source] Genetic polymorphism of sulfotransferase 1A1, cigarette smoking, hazardous chemical exposure and urothelial cancer risk in a Taiwanese populationINTERNATIONAL JOURNAL OF UROLOGY, Issue 12 2008Yuan-Hung Wang Objectives: To investigate the association between genetic polymorphism of sulfotransferase1A1 (SULT1A1), cigarette smoking, hazardous chemical exposure and urothelial cancer risk in a Taiwanese population. Methods: In a hospital-based case,control study, a total of 300 urothelial cancer (UC) cases and 300 cancer-free controls frequency-matched by age and gender were recruited from September 1998 to December 2005. The SULT1A1 arginine213histidine (Arg213His) polymorphism was genotyped using a polymerase chain reaction,restriction fragment length polymorphism method. Results: We found that the significantly increased UC risks of ever smokers and heavy smokers (,28 pack-years) were 2.1 (95% confidence interval [CI] = 1.4,3.3) and 2.2 (95% CI = 1.3,3.6), respectively. An increased UC risk of 1.8 (95% CI = 0.8,3.8) was observed among individuals with more than one item of hazardous chemical exposure, but it was not statistically significant. Compared with study subjects carrying the SULT1A1 Arg/Arg genotype, those with SULT1A1 Arg/His or His/His genotypes have a significantly decreased UC risk (Odds ratio [OR] = 0.5, 95% CI = 0.3,0.8). Heavy smokers carrying the SULT1A1 Arg/Arg genotype have a significantly increased UC risk (OR = 5.2, 95% CI = 2.3,11.6). Individuals who had been exposed to more than one item of hazardous chemicals and who carried the SULT1A1 Arg/Arg genotype have a significantly increased UC risk (OR = 3.7, 95% CI = 1.4,9.7). The highest significant increased UC risk (OR = 16.1, 95% CI = 2.9,87.2) was observed among ever smokers with hazardous chemical exposure and the SULT1A1 Arg/Arg genotype. Conclusions: SULT1A1 Arg213His polymorphism is associated with the development of UC, especially among cigarette smokers exposed to hazardous chemicals. [source] Molecular analysis of thiopurine S -methyltransferase alleles in Taiwan aborigines and TaiwaneseJOURNAL OF CLINICAL PHARMACY & THERAPEUTICS, Issue 1 2006H-F. Lu MS Summary Background:, Thiopurine S -methyltransferase (TPMT) is a cytosolic enzyme involved in the metabolism of these thiopurine drugs. Methylation of thiopurine drugs by TPMT competes with the formation of their active 6-thioguanine nucleotide metabolite, thereby potentially modulating the therapeutic and toxic effects of these drugs. Objective:, To analyze the thiopurine S -methyltransferase allelic frequencies in Taiwan aborigines and Taiwanese. Methods:, We used polymerase chain reaction,restriction fragment length polymorphism method to determine the allelic frequencies of TPMT variants (TPMT*1,TPMT*8) in 409 Taiwan aborigines and 117 Taiwanese. Results and discussion:, The results showed that the allelic frequencies of TPMT*1 were 99·88% and 98·72% for Taiwan aborigines and Taiwanese respectively. The allelic frequencies of TPMT*3C were 0·12% and 1·28% for Taiwan aborigines and Taiwanese respectively. No TPMT*2, 3A, 3B, 3D and 4,8 were found in these populations. Conclusion:, Our results provide useful information for using thiopurine drugs in these populations. [source] Interleukin-1, and -10 polymorphisms influence erosive reflux esophagitis and gastritis in Taiwanese patientsJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 8 2010Hsin-Hung Cheng Abstract Background and Aims:,Helicobacter pylori (H. pylori) infection induces cytokine production and is associated with gastrointestinal diseases. This study examined the relationship of gene polymorphisms, including interleukin (IL) -1,, -10, -8, and tumor necrosis factor-, (TNF-,), H. pylori infection, and susceptibility to gastrointestinal disorders in Taiwanese patients. Methods:,IL-1,,511/,31/+3953, -10,1082/,819/,592, -8,251, and TNF-,,308 polymorphisms were assessed in 628 gastrointestinal disease patients, and 176 healthy controls were analyzed using the polymerase chain reaction,restriction fragment length polymorphism method. Results:,IL-1,,511 T/T and ,31 C/C genotypes, and IL-1,,511 T and ,31 C alleles were associated with an increased risk of reflux esophagitis (P = 0.034, odds ratio [OR] = 1.384, 95% confidence interval [CI]: 1.023,1.871; P = 0.031, OR = 1.388, 95% CI: 1.028,1.873; P = 0.044, OR = 1.342, 95% CI: 1.008,1.786; and P = 0.040, OR = 1.349, 95% CI: 1.014,1.796, respectively). No relationship was found between H. pylori infection and the risk of reflux esophagitis. IL-10,819 C/T and -10,592 A/C genotypes and IL-10,1082/,819/,592 ATA/ACC and ATA/GCC haplotypes were associated with an increased risk of gastritis (P = 0.021, OR = 1.721, 95% CI: 1.084,2.733; P = 0.016, OR = 1.766, 95% CI: 1.112,2.805; P = 0.039, OR = 1.662, 95% CI: 1.024,2.697; and P = 0.035, OR = 1.600, 95% CI: 1.024,2.499, respectively). Conclusion:, Among Taiwanese patients, IL-1, and -10 polymorphisms were associated with an increased risk of erosive reflux esophagitis and gastritis, respectively. [source] Methylenetetrahydrofolate reductase polymorphism in Kawasaki diseasePEDIATRICS INTERNATIONAL, Issue 3 2000Hirokazu Tsukahara Abstract Background: A genetic aberration in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene (677 C to T substitution) has been shown to result in reduced enzyme activity. The hypothesis tested in the present study was that a higher proportion of Kawasaki disease (KD) patients with coronary artery lesions (CAL) would have the T677 allele compared with patients without CAL and healthy subjects. Methods: Genotypes for MTHFR were determined in 75 KD patients (male : female ratio 52:23) and 238 healthy subjects (male : female ratio, 110:128) by the polymerase chain reaction and restriction fragment length polymorphism method. Results: The results indicated that female KD patients had a significantly higher frequency of the TT genotype compared with female control subjects. In the female population, the frequency of the TT genotype in patients with initial coronary aneurysm was significantly lower than in patients without this manifestation. Analysis of the data for the male population showed that the frequency of the TT genotype in KD patients developing coronary stenosis, occlusion or myocardial infarction was higher than that in those without these manifestations, although the difference was statistically insignificant. Conclusions: The TT genotype may protect female KD patients against initial aneurysm formation and predispose male KD patients to severe coronary complications. Further large-scale studies may be required to confirm the contribution of homocysteine in the coronary sequelae of KD. [source] Association of human ,-opioid receptor gene polymorphism A118G with fentanyl analgesia consumption in Chinese gynaecological patientsANAESTHESIA, Issue 2 2010W. Zhang Summary One hundred and seventy-four Chinese gynaecology patients were studied for the impact of A118G polymorphism in the ,-opioid receptor gene (OPRM1) on pain sensitivity and postoperative fentanyl consumption. Pre-operatively, the pain threshold and pain tolerance threshold were measured using electrical stimulation. A118G polymorphism was genotyped using the polymerase chain reaction,restriction fragment length polymorphism method. Intravenous fentanyl patient-controlled analgesia provided postoperative pain management, assessed using a visual analogue scale and fentanyl consumed in the first 24 h after surgery was noted. We found the prevalence of G118 allele was 31.3%. The A118G polymorphism had a gene-dose-dependent effect on electrical pain tolerance threshold. Fentanyl consumption was also significantly different in patients with different OPRM1 genotypes (homozygotes for 118G consumed more than did heterozygotes or homozygotes for 118A). Fentanyl consumption increased in accordance with the number of 118G alleles. We conclude that OPRM1 gene analysis may help predict individual opioid sensitivity and so optimise postoperative pain control. [source] The +869T/C polymorphism in the transforming growth factor-,1 gene is associated with the severity and intractability of autoimmune thyroid diseaseCLINICAL & EXPERIMENTAL IMMUNOLOGY, Issue 3 2008H. Yamada Summary The severity of Hashimoto's disease (HD) and the intractability of Graves' disease (GD) vary among patients. To clarify whether the +869T/C polymorphism in the transforming growth factor-,1 (TGF-,1) gene, which is associated with TGF-,1 expression, is involved in the intractability of GD and severity of HD, we genotyped the TGF-,1 +869T/C polymorphism by polymerase chain reaction,restriction fragment length polymorphism method in genomic DNA samples from 33 patients with HD who developed hypothyroidism before they were 50 years old (severe HD) and 30 untreated, euthyroid patients with HD who were older than 50 years (mild HD). We also examined 48 euthyroid patients with GD who had been under treatment and were still positive for anti-thyrotropin receptor antibodies (intractable GD), 20 euthyroid patients with GD in remission and 45 healthy controls. The frequency of the T allele and the TT genotype were higher in patients with severe HD than in those with in mild HD. In contrast, the frequency of the CC genotype was higher in patients with intractable GD than in patients with GD in remission. In conclusion, the +869T/C polymorphism in the TGF-,1 gene is associated with the severity and intractability of autoimmune thyroid disease. [source] | ||||||||||