Prenatal paternity testing using DNA extracted from coelomic cells.

Objective: Prenatal paternity testing can be performed following invasive prenatal diagnosis with amniocentesis or CVS. Coelocentesis is a new technique that could be used as an alternative method early in the first trimester of pregnancy. The aim of this study is to investigate the potential use of the DNA extracted from coelomic cells in the prenatal paternity testing.

Distribution and frequency of beta-thalassemia mutations in northwestern and central Greece.

Objectives: Beta-Thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of the beta-globin genes. The spectrum of beta-thalassemia mutations in Greece has been previously described in the population of the capital city of Athens, or in beta-thalassemia patients having transfusion therapy. The aim of the present study was to identify the distribution of the most common beta-thalassemia mutations in the population of northwestern and central Greece.

The Sp1 COLIA1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women.

Several genetic polymorphisms are implicated as determinants of bone mineral density (BMD) in postmenopausal women. These include the Sp1 polymorphism of the collagen type I alpha 1 (COLIA1) gene, the FokI and BsmI polymorphisms of the vitamin D receptor (VDR) gene, and the PvuII and XbaI polymorphisms of the estrogen receptor (ER) gene. The relative importance and the independence of these genetic effects have not been studied simultaneously in the same population.

Genotypes of N-acetyltransferase-2 and risk of bladder cancer: a case-control study.

Purpose: This study was conducted to examine whether certain slow N-acetylation genotypes could be risk factors for bladder cancer, and the possible association between specific genotypes and the severity of the disease at first diagnosis.

Materials And Methods: This case-control study included 89 patients with transitional cell bladder cancer (diagnosed over a period of 21 months) and 147 controls. N-acetyltransferase-2 (NAT-2) genotypes were identified by allele specific polymerase chain reaction (PCR) on peripheral blood DNA samples.

Prenatal diagnosis of beta-thalassaemia by coelocentesis.

Coelomic fluid and placental tissue were obtained from four women undergoing termination of pregnancy at 7-9 weeks gestation for psychological reasons. All four women and their partners were known carriers of beta-thalassaemia and DNA analysis in their blood identified the mutation carried by each of them. Allelespecific polymerase chain reaction and denaturing gradient gel electrophoresis techniques were used to detect and identify the mutations in the DNA extracted from the coelomic cells and placental tissue.