Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.

Objective: Mutations in the GJB2 gene are a major cause of hereditary hearing loss. However, only a few studies have investigated carrier frequencies of GJB2 mutations in the general population. The aim of this study was to estimate the carrier frequencies of three GJB2 mutations, including 235delC, V37I, and G45E, in the general Korean population.

Ovarian leiomyoma as a potential cause of compromised fertility.

Objective: To analyze cases of ovarian leiomyomas and to discuss the proper surgical management.

Design: A case series and discussion.

Setting: General university hospital and healthcare center.

Genetic polymorphism of catechol-O-methyltransferase and cytochrome P450c17α in preeclampsia.

Objective: Catechol-O-methyltransferase (COMT) and cytochrome P450c17α (CYP17A1) are key enzymes involved in the metabolism of steroid hormones; genetic polymorphisms in these genes affect enzyme activity. Recently, functional polymorphisms in the COMT and CYP17A1 genes have been suggested as a susceptible marker for intrauterine fetal growth restriction, a typical complication of preeclampsia. Moreover, a close association between COMT and preeclampsia was reported.