Research on Alagille syndrome detailed by scientists at University of Washington, Division of Gastroenterology
2007 AUG 27 -- Investigators publish new data in the report "Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an aggressive and sequential screening approach we identified JAG1 mutations in 94% of individuals," researchers in the United States report. "Mutations were found in 232 out of 247 patients studied and 83 of the mutations were novel. This increase in the mutation rate was accomplished by combining rigorous clinical phenotyping, with a combination of mutation detection techniques, including fluorescence in situ hybridization (FISH), genomic and cDNA sequencing, and quantitative PCR. This higher rate of mutation identification has implications for clinical practice, facilitating genetic counseling, prenatal diagnosis, and evaluation of living-related liver transplant donors," wrote D.L. Suskind and colleagues, University of Washington, Division of Gastroenterology. The researchers concluded: "Our results suggest that more aggressive screening may similarly increase the rate of mutation detection in other dominant and recessive disorders." Suskind and colleagues published their study in Hepatology (Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. Hepatology, 2007;46(2):598-9). For additional information, contact D.L. Suskind, University of Washington School of Medicine, Division of Gastroenterology, Seattle Children's Hospital, Seattle, WA USA.. Publisher contact information for the journal Hepatology is: John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United States, Seattle, Alagille Syndrome, Bioengineering, Biomedical Engineering, Biomedicine, Hepatology, Liver Transplant, Organ Transplant. This article was prepared by Hematology Week editors from staff and other reports. Copyright 2007, Hematology Week via NewsRx.com.
|
