Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis.

Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic primary ovarian insufficiency (POI) cases with the gene panel basedon next generation sequencing analysis and to establish the relationship between genotype and phenotype.

Materials And Methods: Twenty three cases aged 14-40 years followed up with POI were included. Patients with a karyotype of 46, XX, primary or secondary amenorrhea before the age of 40, with elevated FSH (>40 IU/mL) and low AMH levels (<0.

Does the TMPRSS6 C > T Polymorphism Modify the Endurance Training Effects on Hematological Parameters?

This study investigated the role of TMPRSS6 C > T polymorphism (TMPRP) on the effects of chronic aerobic training on main hematological parameters in male soccer referees, which is yet unknown. Two groups composed of total of 45 healthy male soccer referees and 42 sedentary were compared for hemogram, serum hepcidin, ferritin, and iron levels. TMPRP was determined from genomic DNA samples.

Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.

Objectives Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the GLA gene on chromosome Xq22. Methods In this article, we aimed to present the largest sample of GLA mutation spectrum including common and novel variants in Turkish population.

The effects of regular aerobic exercise training on blood nitric oxide levels and oxidized LDL and the role of eNOS intron 4a/b polymorphism.

Background: Nitric oxide (NO), oxidized LDL (OxLDL) and endothelial nitric oxide synthase intron 4a/b polymorphism (eNOSP) are related to atherosclerosis (AS). The present study investigated the effects of regular aerobic exercise training on the mentioned risk factors as well as blood lipids and lipoproteins (BLLPs) and the role of eNOSP, which is unclear.

Methods: The study was participated by 46 well trained male soccer referees as the athletic group (AG, age; 23.