Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS.

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy and is both phenotypically and genotypically heterogeneous. A large number of genetic variants have been found in different genes, so far. Based on the literature, we identified 7 genes and aimed to find new causative variants in these genes.

Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.

SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing. The exact copy numbers of those exons in the SMN1 and SMN2 genes in 113 patients who presented with a pre-diagnosis of SMA were determined using MLPA method.

Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.

To date, over 200 alterations have been reported in Mediterranean fever (MEFV) genes, but it is not clear whether all these alterations are disease-causing mutations. This study aims to evaluate the clinical features of the children with R202Q alteration. The medical records of children with R202Q alteration were reviewed retrospectively.

The effect of HBB: c.*+96T>C (3'UTR +1570 T>C) on the mild b-thalassemia intermedia phenotype.

Hemoglobin beta (HBB): c.*+96T>C substitution is very rare among β-globin gene mutations and its clinical significance remains to be clarified. The present study aimed to investigate the role of HBB: c.

The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population.

Identification of the beta globin gene mutation-related haplotypes is of interest for the delineation of the clinical heterogeneity as well as understanding of the origin and spreading of the beta globin gene mutations. We screened the whole beta globin gene in 197 Turkish patients by direct sequencing and performed Haploview analyses for beta globin gene haplotyping using five common intragenic SNPs; rs713040, rs10768683, rs7480526, rs7946748, and rs1609812. We found 25 different beta globin gene point mutations by sequencing.

The association between inherited thrombophilias and pregnancy-related hypertension recurrence.

Purpose: The aim of this study was to determine the association between inherited thrombophilias and pregnancy-related hypertension recurrence.

Methods: In this case-control study, blood samples were obtained from patients who had at least two pregnancies complicated with pregnancy-related hypertension (n = 41) and healthy, normotensive pregnancies delivered without any complication (n = 38). Following the DNA extraction, samples were tested for factor V Leiden, prothrombin G20210A and homozygous methylene tetrahydrofolate reductase (MTHFR) C677T mutations using reverse hybridization method.