The analysis of 2 diallelic loci (M470V and T854T) and a microsatellite IVS8(T)n of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has shown different haplotype distribution in Brazilian cystic fibrosis (CF) chromosomes carrying different CF mutations. The DeltaF508 mutation was in absolute linkage disequilibrium with 1-1 haplotype (M470V-T854T). Most of DeltaF508 chromosom...

Department of Organic Chemistry, Insti Barcelona (IECC-UB), c. Mart́ı i Franquès E-mail: [email protected] Materials Sciences Division, Lawrence Ber 94720, US Department of Chemical Engineering, Polyt Diagonal 647, Barcelona, Catalonia, 08028 The Molecular Foundry, Lawrence Berkeley 94720, US Nanometric Techniques Unit. Scientic University of Barcelona, c. Llúıs Solé i Sabaŕ † Electronic supplement...

A sensitive and fully DNA-structured ion sensor was built by integrating polyT sequences for highly selective Hg2+ recognitions and two flanking G-quadruplex halves for allosteric signal transductions. The construction of this sensor was very easy that allowed a cost-effective detection of Hg2+ with a limit of detection of 4.5 nM, which was lower than the 10 nM toxic level for drinkable water a...

Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF) mutation, delta F508, much more frequently than the general population. Among the 716 IRT positive newborns detected by a three tier (IRT, mutation analysis plus meconium lactase assay, sweat test) CF screening programme in north eastern Italy...

It has been proposed that the gene responsible for cystic fibrosis, called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, may play an important role in the process of spermatogenesis. A group of azoospermic men with primary testicular failure underwent CFTR mutation analysis, including assessment of the intron 8 polythymidine tract (IVS8-T tract). An association was not fo...

Neonatal diabetes can be either permanent or transient. We have recently shown that permanent neonatal diabetes can result from complete deficiency of glucokinase activity. Here we report three new cases of glucokinase-related permanent neonatal diabetes. The probands had intrauterine growth retardation (birth weight <1,900 g) and insulin-treated diabetes from birth (diagnosis within the first ...

BACKGROUND Apolipoprotein E (APOE) is the most statistically significant genetic risk factor for late-onset Alzheimer disease (LOAD). The linkage disequilibrium pattern around the APOE gene has made it difficult to determine whether all the association signal is derived from APOE or whether there is an independent signal from a nearby gene. OBJECTIVE To attempt to replicate a recently reporte...