Cystic fibrosis mutations in North American populations of French ancestry: Analysis of Quebec French-Canadian and Louisiana Acadian families

A 3-bp deletion (ΔF508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry: French-Canadian families referred from hospitals in three cities in Quebec and from the Saguenay-Lac St. Jean region of northeastern Quebec and Acadian families living in Louisiana. ΔF508 was present on 71%, 55%, and 70% of the CF chromosomes from the major-urban Quebec, Saguenay-Lac St. Jean, and Louisiana Acadian families, respectively. A weighted estimate of the proportion of ΔF508 in the French-Canadian patient population of Quebec was 70%. We found that 95% of the CF chromosomes with ΔF508 had D7S23 haplotype B, the most frequent haplotype on CF chromosomes. In the Saguenay-Lac St. Jean families, 86% of the CF chromosomes without ΔF508 had the B haplotype, compared with 31% for the major-urban Quebec and Louisiana Acadian families. The incidence of CF in the Saguenay-Lac St. Jean population was 1/895 live-born infants

Screening for genetic mutations [1]

Scientific Correspondence: Rapid detection of single-base substitution by PNA-DNA hybridization in capillary electrophoresislink_to_subscribed_fulltex

Enhanced Charge Transport Properties of Dye-Sensitized Solar Cells Using TiN x

In this Article, the improvement in the conversion efficiencies of dye-sensitized solar cells (DSSCs) was observed by integrating a small amount of thermally oxidized titanium nitride (TiNxOy) particles into the hydrothermally growth TiO2 nanoparticles to form the composite photoanode. The oxidation of titanium nitride (TiN) to TiNxOy (N-doped TiO2) was achieved using a simple single-step annealing process at 450 °C for 1 h. The existence of the O–Ti–N linkage in TiNxOy was verified using X-ray photoemission spectroscopy (XPS). The DSSCs using the composite photoanode with 5 wt % of TiNxOy particles in TiO2 showed optimum conversion efficiency with a 25.6% improvement over the conventional DSSCs using only the mesoporous TiO2 layer as photoanode. Higher incident photon-current conversion efficiency (IPCE) values were also obtained for these composite photoanodes. This marked improvement was attributed to the combined synergetic effects of an extra absorption in the visible region and an enhanced efficiency in the electron transport. The extra absorption region at 400–500 nm for TiNxOy was observed using a UV–vis spectrophotometer. In addition, the reduction of charge transport resistance in the composite photoanode as verified using electrochemical impedance spectroscopy (EIS) has also contributed to faster electron transport through the interpenetrating oxide layer

Human chromosome 7:DNA sequence and biology

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism