Alpha 1 antitrypsin deficiency predisposes subjects to developing pulmonary emphysema and childhood liver cirrhosis. We have studied restriction fragment length polymorphisms (RFLPs) of the alpha 1 antitrypsin gene in a normal population and a group of patients with pulmonary emphysema. We have identified five RFLPs with eight restriction enzymes. The most frequent polymorphisms have been detec...

Cardiovascular disease due to atherosclerosis is the major determinant of morbidity and mortality in uremic patients. Inflammation is essential in the development of atherosclerosis and markers of inflammation, in particular C-reactive protein, predict the cardiovascular risk. Vitamin D exerts its effects through the Vitamin D Receptor, coded for by a gene showing several polymorphisms associat...

The aim of this study was to test for the possible association between vitamin D receptor (VDR) genetic variants and susceptibility to gallbladder cancer (GBC). A total of 291 GBC cases were recruited and 396 gender- and age-matched healthy volunteers were enrolled as controls. The VDR gene polymorphisms were determined in all subjects. The genotype and the allele frequencies of ApaI, BsmI, and...

Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Deficiency of OTC results in neonatal hyperammonemia, coma, and death in childhood. Because fibroblasts do not express OTC, prenatal diagnosis in the past has required fetal liver biopsy. Using a complementary DNA (cDNA) for OTC for Southern blot analysis of genom...

Ardinger et al. (1989) hypothesized that there might be a nonrandom association between clefting and RFLPs of candidate genes which have a role in palate formation. They reported a significant association between two RFLPs of transforming growth-factor alpha (TGFa) and clefting in a group of 80 patients with nonsyndromic cleft lip with or without cleft palate (CLIP) and in a group of 102 contro...

Control and preventive measures for gonococcal infections are based on precise epidemiological characteristics of N. gonorrhoeae isolates. In the present study the potential utility of opa-typing and ribotyping for molecular epidemiological study of consecutive gonococcal strains was determined. Sixty gonococcal isolates were subjected to ribotyping with two restriction enzymes, AvaII and HincI...

UNLABELLED Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI m...

PURPOSE The purpose of this study was to examine whether vitamin D receptor (lVDR) polymorphisms are associated with susceptibility to melanoma. METHODS A meta-analysis was carried out to investigate the association between the VDR FokI, BsmI, TaqI, ApaI, and EcoRV polymorphisms and susceptibility to melanoma. RESULTS A total of 11 studies were evaluated, which included 4,413 patients and 4...

AIM The aim of this study is to investigate the relationship between a vitamin D receptor polymorphism and the diagnosis of periodontal disease in non-smoker Italian patients with aggressive and chronic periodontitis. MATERIALS AND METHODS DNA was obtained from the internal cheek mucosa of 115 patients with chronic periodontitis, 58 with aggressive periodontitis and 65 healthy controls. Allel...

A correlation between the presence of 5.6-kilobase plasmids and bacteriocin activity was found in human-derived strains of Streptococcus mutans. Compared with bacteriocin activity of randomly selected clinical isolates of plasmid-negative strains, bacteriocin activity of plasmid-positive strains significantly inhibited not only two laboratory strains of S. mutans, OMZ176 and AHT (P less than 0....