Yazan: admin Tarih: May 19th, 2011 | Kategori::
Gene polymorphisms
Mol Med Report. 2010 Jul-Aug;3(4):723-7. doi: 10.3892/mmr_00000324.
Microsomal epoxide hydrolase polymorphisms.
Pinarbasi H, Silig Y, Pinarbasi E.
Source
Department of Biochemistry, Faculty of Medicine, Cumhuriyet University, 58140 Sivas, Turkey. hpinar2658@gmail.com.
Abstract
Microsomal epoxide hydrolase plays a dual role in the activation and detoxification of carcinogenic compounds. Two polymorphic sites have been described in exons 3 and 4 of the microsomal epoxide hydrolase gene that change tyrosine residue 113 to histidine (Tyr113His) and histidine 139 to arginine (His139Arg), respectively. The exon 3 polymorphism reduces enzyme activity by approximately 50%, whereas the exon 4 polymorphism causes a 25% increase in activity. In the present study, the distribution of these polymorphisms in a Turkish population including 625 unrelated healthy individuals was examined using a PCR-RFLP method. The observed genotype frequencies of microsomal epoxide hydrolase exon 3 were 54, 38 and 8% for Tyr113Tyr, Tyr113His and His113His, respectively. Exon 4 genotype frequencies were found to be 69, 29 and 2% for His139His, His139Arg and Arg139Arg, respectively.
Yazan: admin Tarih: Oca 25th, 2011 | Kategori::
Diabetic Retinopathy
Curr Eye Res. 2010 Dec;35(12):1128-34. Epub 2010 Oct 20.
Demiryurek AT, Erbagci I, Oztuzcu S, Alasehirli B, Ozkara E, Seker M, Sönmez A, Ozsan M, Camci C.
Department of Pharmacology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey. demiryurek@gantep.edu.tr
Abstract
PURPOSE: To analyze the genotype distributions and allele frequencies for ROCK2 Thr431Asn and Arg83Lys polymorphisms among the diabetic retinopathy patients in a Turkish population.
METHODS: In this case-control study, 335 patients with diabetes mellitus were recruited and divided into three groups according to non-proliferative (n = 127), proliferative (n = 85) diabetic retinopathy, and no retinopathy (n = 123, served as a diabetic control group). Genomic DNA from the patients, and the nondiabetic healthy control cases (n = 132) was analyzed by real-time PCR using a Light-Cycler.
RESULTS: Neither genotype distributions nor the allele frequencies for the Thr431Asn or Arg83Lys polymorphisms showed a significant difference between the groups. The haplotypes were also not significantly associated with diabetic retinopathy.
CONCLUSION: These results suggest that there were no evidence for an association of ROCK2 gene Thr431Asn and Arg83Lys polymorphisms with diabetes or diabetic retinopathy in the Turkish population.
Yazan: admin Tarih: Oca 25th, 2011 | Kategori::
E-cadherin,
nephrolithiasis
Mol Biol Rep. 2010 Dec 14.
Yilmaz A, Menevse S, Onaran M, Sen I, Ergun MA, Camtosun A, Kupeli B, Bozkirli I.
Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara, 06500, Turkey.
Abstract
Nephrolithiasis is a complex disease and many gene polymorphisms have been associated with stone formation. In this study we aimed to investigate another possible relationship between E-cadherin gene (CHD1) 3′-UTR C/T polymorphism and calcium oxalate nephrolithiasis in the Turkish population. Study population was composed of 143 patients with nephrolithiasis and 158 control subjects. CHD1 3′-UTR C/T polymorphism was analysed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique. Genotype distribution of the investigated polymorphism was not deviated from Hardy-Weinberg equilibrium (HWE) in patients and control subjects (P > 0.05). C allele frequency was 85.7 and 85.1% in patients and controls, respectively (P = 0.836). Genotype distributions of the CHD1 3′-UTR C/T polymorphism among patients were also not significantly different from those among control subjects (P = 0.636). Our results showed that there is no association between the CHD1 gene 3′-UTR C/T polymorphism and nephrolithiasis in our population.
Yazan: admin Tarih: Şub 25th, 2010 | Kategori::
Paraoxonase
Turk Kardiyol Dern Ars. 2009 Oct;37(7):473-8.
Taşkiran P, Cam SF, Sekuri C, Tüzün N, Alioğlu E, Altintaş N, Berdeli A.
Department of Medical Biology and Genetics, Medicine Faculty of Celal Bayar University, Manisa, Turkey.
OBJECTIVES: Paraoxonase (PON1) is a high-density lipoprotein (HDL)-associated esterase that hydrolyses lipoperoxides. PON1 serves as a protective factor against oxidative modification of LDL, suggesting that it may play an important role in the prevention of atherosclerotic process. Research has focused on two polymorphisms: leucine (L allele) to methionine (M allele) substitution at codon 55, and glutamine (A allele) to arginine (B allele) substitution at codon 192. STUDY DESIGN: We examined amino acid changes at codon 55 and 192 in the PON1 gene by polymerase chain reaction and using restriction enzymes in 120 patients (92 men, 28 women; mean age 48.2+/-4.3 years) with premature coronary artery disease (CAD) and in 102 healthy subjects (80 men, 22 women; mean age 46.8+/-5.2 years) with no history of CAD and a normal electrocardiogram. RESULTS: Distribution of genotypes in the patient and control groups at codon 55 were 6.7% and 4.9% for MM, 46.7% and 29.4% for LM, 46.7% and 65.7% for LL, respectively. The frequency of genotypes at codon 192 were as follows: 4.2% and 2% for RR, 40% and 35.3% for QR, and 55.8% and 62.8% for QQ, respectively. While the frequency of PON1 55M allele was higher in the CAD group (0.3 vs. 0.2), PON1 192R allele frequency did not differ (p>0.05). There was a significant relationship between the PON1 M/L55 polymorphism and CAD (p=0.017), whereas the R/Q192 polymorphism was not associated with CAD (p=0.445). CONCLUSION: These data suggest that the PON1 M/L55 polymorphism shows a significant relationship with CAD and the Q/R192 polymorphism is not a major risk factor causing susceptibility to CAD in our population.
