Application of DETECTER, an evolutionary genomic tool to analyze genetic variation, to the cystic fibrosis gene family

January 2006
BMC Genomics;2006, Vol. 7, p44
Academic Journal
No abstract available.


Related Articles

  • Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates. Glavaö, Damjan; Ravnik-Glavač, Metka; Potočnik, Uroš; Dean, Michael; Wine, Jeffrey // Pflugers Archiv European Journal of Physiology;Apr2000, Vol. 439 Issue 7, pr012 

    We report here a comparison of isotopic and non-isotopic conformation analysis approach, for screening genomic DNA for coding variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A large pool of non-human primates was tested in order to detect naturally occuring...

  • Cystic fibrosis genetics: from molecular understanding to clinical application. Cutting, Garry R. // Nature Reviews Genetics;Jan2015, Vol. 16 Issue 1, p45 

    The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can...

  • Chance and necessity in the evolution of a bacterial pathogen. Lenski, Richard E. // Nature Genetics;Dec2011, Vol. 43 Issue 12, p1174 

    The combination of genomic, epidemiological and evolutionary analyses provides a powerful toolbox for understanding how pathogens adapt to their human hosts. By sequencing 112 Burkholderia dolosa genomes from an outbreak among patients with cystic fibrosis, a new study documents evolution in...

  • Commentary: Active cascade screening for cystic fibrosis. Marteau, Theresa // BMJ: British Medical Journal (International Edition);6/4/94, Vol. 308 Issue 6942, p1468 

    Comments on the application of active cascade screening for cystic fibrosis gene detection in Great Britain. Identification of the medical objective; Impact of the carrier status on pregnancy prenatal tests; Provision of genetic screening services.

  • Identification of the cystic fibrosis gene. Knight, Richard A.; Hodson, Margaret E. // BMJ: British Medical Journal (International Edition);2/10/90, Vol. 300 Issue 6721, p345 

    Focuses on the identification of the cystic fibrosis gene and its implications for patients and families. Identification of mutation on patients; Establishment of genetic sequence; Evaluation of screening in cystic fibrosis; Anxiety on the therapeutic implications on the identification of genes.

  • Tek gen hastalıkları ve modifiye edici genler: Genotip her zaman fenotipi yansıtır mı? YENER, İnci Hande; DAYANGAÇ ERDEN, Didem // Marmara Medical Journal;May2014, Vol. 27 Issue 2, p96 

    Although monogenic disorders are caused by mutations in one gene, phenotypic variability occurs in patients with the same genotype and disease expressivity changes. Modifier genes are one of the main factors that affect disease severity. In monogenic disorders such as spinal muscular atrophy...

  • ITEP: An integrated toolkit for exploration of microbial pan-genomes. Benedict, Matthew N.; Henriksen, James R.; Metcalf, William W.; Whitaker, Rachel J.; Price, Nathan D. // BMC Genomics;2014, Vol. 15 Issue 1, p1 

    Background Comparative genomics is a powerful approach for studying variation in physiological traits as well as the evolution and ecology of microorganisms. Recent technological advances have enabled sequencing large numbers of related genomes in a single project, requiring computational tools...

  • Hidden benefits. Glausiusz, Josie // Discover;Mar95, Vol. 16 Issue 3, p30 

    Reports on the spread of the cystic fibrosis gene in Europe. Protection of cystic fibrosis gene carriers against diarrhea; Presence of chloride channels in cystic fibrosis gene carriers; Factors behind the survival of the cystic fibrosis mutation in Europe.

  • Lethal gene as old as Europeans. Vines, Gail // New Scientist;6/3/95, Vol. 146 Issue 1980, p15 

    Cites the claims of evolutionary biologist Jaume Bertranpetit that the mutant gene that causes cystic fibrosis came to Europe with the first modern humans. Survival of gene for more than 2,500 generations; Symptoms of cystic fibrosis disease; Suggestion that mutation swept through Europe during...

  • Gene-ius at work. Scott, G. // Current Health 2;Feb1992, Vol. 18 Issue 6, p26 

    Discusses current research into genetic diseases. Hereditary diseases such as Huntington's chorea and cystic fibrosis; Connection between deoxyribonucleic acid (DNA) and genetic diseases; Distinction between `cause' and `risk'; The Human Genome Project; Importance of family medical history and...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics