GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls. Ninety-five patients with profound hearing loss (>90 dB) and 67 healthy controls were included. All patients had genetic nonsyndromic hearing loss.

FXIII gene Val34Leu polymorphism in Turkish children with cerebral infarct.

A common polymorphism of the FXIIIA gene, which is characterized by a Val --> Leu exchange at amino acid position 34 (FXIII Val34Leu), was studied in this case-control study. The authors sought to determine whether there was an association between this polymorphism and pediatric stroke. The case-control study included 116 patients with cerebral infarct who were younger than 18 years.

T102C polymorphism of the serotonin (5-HT) 2A receptor gene in Turkish children with cerebral infarct.

Platelet-dependent thromboembolism is an underlying mechanism in the pathogenesis of stroke. 5-HT2A receptor gene is expressed in human platelet, coronary artery (blood vessels) and brain. A polymorphism T102C at the 5-HT2A receptor gene was found that may possibly affect the 5-HT2A receptor function.