Memorial University of Newfoundland

About: Memorial University of Newfoundland is a education organization based out in St. John's, Newfoundland and Labrador, Canada. It is known for research contribution in the topics: Population & Gadus. The organization has 13818 authors who have published 27785 publications receiving 743594 citations. The organization is also known as: Memorial University & Memorial University of Newfoundland and Labrador.

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.

Abstract: It has recently been shown that hereditary nonpolyposis colorectal cancer (HNPCC) is caused by hereditable defects in DNA mismatch repair genes However, the fraction of HNPCC due to defects in any one repair gene and the nature of these mutations are not known We analyzed 29 HNPCC kindreds for mutations in the prototype DNA mismatch repair gene hMSH2 by a combination of linkage analysis, polymerase chain reaction-based screening, and sequencing of the coding region The complete intron/exon structure of the gene was ascertained to facilitate this analysis The results suggest that at least 40% of classic HNPCC kindreds are associated with germline mutations in hMSH2 and that most of these mutations produce drastic alterations in the predicted protein product

Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer

Abstract: ContextHereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and lobular breast cancer.ObjectiveTo determine whether recurring germline CDH1 mutations occurred due to independent mutational events or common ancestry.Design, Setting, and PatientsThirty-eight families diagnosed clinically with hereditary diffuse gastric cancer were accrued between November 2004 and January 2006 and were analyzed for CDH1 mutations as part of an ongoing study at the British Columbia Cancer Agency. Twenty-six families had at least 2 gastric cancer cases with 1 case of diffuse gastric cancer in a person younger than 50 years; 12 families had either a single case of diffuse gastric cancer diagnosed in a person younger than 35 years or multiple cases of diffuse gastric cancer diagnosed in persons older than 50 years.Main Outcome MeasuresClassification of family members as carriers or noncarriers of CDH1 mutations. Haplotype analysis to assess recurring mutations for common ancestry was performed on 7 families from this study and 7 previously reported families with the same mutations.ResultsThirteen mutations (6 novel) were identified in 15 of the 38 families (40% detection rate). The 1137G>A splicing mutation and the 1901C>T (A634V) missense/splicing mutation occurred on common haplotypes in 2 families but on different haplotypes in a third family. The 2195G>A (R732Q) missense/splicing mutation occurred in 2 families on different haplotypes. The 2064-2065delTG mutation occurred on a common haplotype in 2 families. Two families from this study plus 2 additional families carrying the novel 2398delC mutation shared a common haplotype, suggesting a founder effect. All 4 families originate from the southeast coast of Newfoundland. Due to concentrations of lobular breast cancer cases, 2 branches of this family had been diagnosed as having hereditary breast cancer and were tested for BRCA mutations. Within these 4 families, the cumulative risk by age 75 years in mutation carriers for clinically detected gastric cancer was 40% (95% confidence interval [CI], 12%-91%) for males and 63% (95% CI, 19%-99%) for females and the risk for breast cancer in female mutation carriers was 52% (95% CI, 29%-94%).ConclusionsRecurrent CDH1 mutations in families with hereditary diffuse gastric cancer are due to both independent mutational events and common ancestry. The presence of a founder mutation from Newfoundland is strongly supported.Published online June 3, 2007 (doi:10.1001/jama.297.21.2360).

Analysis and design of a multiple feedback loop control strategy for single-phase voltage-source UPS inverters

Abstract: This paper presents the analysis and design of a multiple feedback loop control scheme for single-phase voltage-source uninterruptible power supply (UPS) inverters with an L-C filter. The control scheme is based on sensing the current in the capacitor of the load filter and using it in an inner feedback loop. An outer voltage feedback loop is also incorporated to ensure that the load voltage is sinusoidal and well regulated. A general state-space averaged model of the UPS system is first derived and used to establish the steady-steady quiescent point. A linearized small signal dynamic model is then developed from the system general model using perturbation and small-signal approximation. The linearized system model is employed to examine the incremental dynamics of the power circuit and select appropriate feedback variables for stable operation of the closed-loop UPS system. Experimental verification of a laboratory model of the UPS system under the proposed closed-loop operation is provided for both linear and nonlinear loads. It is shown that the control scheme offers improved performance measures over existing schemes, It is simple to implement and capable of producing nearly perfect sinusoidal load voltage waveform at moderate switching frequency and reasonable size of filter parameters. Furthermore, the scheme has excellent dynamic response and high voltage utilization of the DC source.

Growth Enhancement in Transgenic Atlantic Salmon by the Use of an “All Fish” Chimeric Growth Hormone Gene Construct

Abstract: We have developed an “all fish” growth hormone (GH) chimeric gene construct by using an antifreeze protein gene (AFP) promoter from ocean pout linked to a chinook salmon GH cDNA clone. After microinjection into fertilized, nonactivated Atlantic salmon eggs via the micropyle, transgenic Atlantic salmon were generated. The presence of the transgene was detected by polymerase chain reaction (PCR) using specific oligonucleotide primers. A number of these transgenic fish showed dramatic increases in their growth rate. At one year old, the average increase of the transgenic fish was 2 to 6 fold and the largest transgenic fish was 13 times that of the average non-transgenic control.