Mine Urfali

Bcıı--RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis.

Abstract Background and aim: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. Method: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood–EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BclI-RFLP method. Results: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694–7.9509), p < 0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (χ2: 13.18; p = 0.000). Conclusions: The current results indicate the germ-line mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.

Intercellular adhesion molecule-1 K469E and angiotensinogen T207M polymorphisms in coronary slow flow.

Objective: To investigate intercellular adhesion molecule-1 (ICAM1) and angiotensinogen (AGT) gene polymorphisms, as related to atherosclerosis and endothelial dysfunction, in coronary slow flow (CSF). Subjects and Methods: The participants in this study were 48 patients with CSF and 67 patients with normal coronary flow as controls. The K469E polymorphism of ICAM1 (rs5498) and the T207M polymorphism of AGT (rs4762) were determined using the polymerase chain reaction amplification method. Results: Baseline demographic parameters were similar in both groups. The mean thrombolysis in myocardial infarction frame count was significantly higher in patients with CSF (23.8 ± 5.1) compared to the controls (13.3 ± 2.6, p < 0.001). A significant association was found between the ICAM1 K allele and CSF (OR: 1.96, 95% CI: 1.15-3.35, p = 0.013). There was no difference in the frequency of AGT T207M genotypes in the patients with CSF and the control subjects. Conclusion: This study showed that K469E polymorphisms of ICAM1 that play a role in atherosclerotic pathogenesis are related to CSF.

Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach?

Introduction: Chromosomal indels are relatively common cytogenetic abnormalities. Nonetheless, clinical outcomes depend on the location, size and genes in deletion or duplication regions. The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by ZP3(Zona pellucida3) gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. UPK3B(Uroplakin 3B), a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b(UPK1B), one of the major conserved urothelium membrane proteins. We herein report two cases presenting with the deletions encompassing POMZP3, UPK3B, ZP3, POM121 and POM121C genes. Case1: 25-year-old female presented to our clinic with recurrent pregnancy loss. After clinical and cytogenetic evaluation, which all of them do not feature, she was diagnosed as the deletion of POMZP3 and UPK3B genes with the array-CGH platform. (Agilent SurePrintG3 HumanCGH 60K) ‡ ‡ ‡ ‡ ‡ ‡

Triploidy/Diploidy Mosaisizm, Diandry and Uniparental Isodisomy: Fetus with Omphalocele and Contracted Finger

Omphalocele is an abdominal wall defect that bowel and/or other visceral organs herniate from umbical ring, which is covered by peritoneal sac. Omphalocele pathogenesis is not clear but familial and genetical factors plays important role to development of omphalocele. Twenty years old, 19 weeks 4 days pregnant, primigravid patient presented. In her ultrasonographic assessment omphalocele was detected and fetus was death. Pregnancy was terminated and genetic studies were performed from fetal blood and tissue biopsy. Karyotype from intracardiac blood sample was found 46, XX. QF-PCR analysis performed from the DNA obtained from fetal skin biopsy; 4:1 peak ratio observed in all the STR regions. This is the first case shows 4:1 peaks at QF-PCR. This finding was incompatible with karyotype. So mosaicism doubt occurred. FISH from skin biopsy showed diploid/triploid mosaicism. Fetuses with omphalocele must be evaluated for additional anomalies and genetic consultation. Our case indicates high frequency of mosaicism and the importance of examination from different tissues with different types of genetic methods. Triploid cell line is found only in fibroblasts in about 70% of cases, so this mixoploidy syndrome is likely underdiagnosed. Performing genetic analysis from different tissues and using different techniques are very important for detecting mosaicism and not to miss the genetic etiology of stillbirths and anomalous fetuses.