Zeynep Ocak

SYBR green dye-based probe-free SNP genotyping: Introduction of T-Plex real-time PCR assay

Single-nucleotide polymorphism (SNP) genotyping is widely used in genetic association studies to characterize genetic factors underlying inherited traits. Despite many recent advances in high-throughput SNP genotyping, inexpensive and flexible methods with reasonable throughput levels are still needed. Real-time PCR methods for discovering and genotyping SNPs are becoming increasingly important in various fields of biology. In this study, we introduce a new, single-tube strategy that combines the tetra-primer ARMS PCR assay, SYBR Green I-based real-time PCR, and melting-point analysis with primer design strategies to detect the SNP of interest. This assay, T-Plex real-time PCR, is based on the T(m) discrimination of the amplified allele-specific amplicons in a single tube. The specificity, sensitivity, and robustness of the assay were evaluated for common mutations in the FV, PII, MTHFR, and FGFR3 genes. We believe that T-Plex real-time PCR would be a useful alternative for either individual genotyping requests or large epidemiological studies.

Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: Report of 6124 cases

The aim of this study was to document the clinical and cytogenetic results of a large series of amniocentesis (AS) cases from Turkey.

Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency

a Department of Obstetrics and Gynecology, Abant _ Izzet Baysal University Medical Faculty, Bolu, Turkey b Department of Medical Genetics, Suleymaniye Maternity Hospital for Research and Training, Istanbul, Turkey c Department of Medical Genetics, Abant _ Izzet Baysal University Medical Faculty, Bolu, Turkey d Department of Perinatology, Suleymaniye Maternity Hospital for Research and Training, Istanbul, Turkey

Frequency of MEFV mutation and genotype–phenotype correlation in cases with dysmenorrhea

We aimed to investigate the relation between mutations and polymorphisms playing roles in the onset of clinical findings of Familial Mediterranean Fever (FMF) and clinical phenotypic reflections manifesting with painful episodes, such as dysmenorrhea.