Haplotype analysis to determine the position of a mutation among closely linked DNA markers |
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| Authors: | Ramsay, Michele Williamson, Robert Estivill, Xavier Wainwright, Brandon J. Ho, Meng-Falt Halford, Stephanie Kere, Juha Savilahti, Erkki Chapelle, Albert de la Schwartz, Marianne Schwartz, Martin Super, Maurice Farndon, Peter Hardlng, Carol Meredith, Linda Al-Jader, Layla Ferec, Claude Claustres, Mirellle Casals, Teresa Nunes, Virginia Gasparini, Paolo Savoia, Anna Pignatti, Pier Franco Novelli, Giuseppe Bennarelli, Massimo Dallapiccola, Bruno Kalaydjieva, Luba Scambler, Peter J. |
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| Affiliation: | Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School London, W2 PG, UK 1Department of Molecular Genetics, Hospital Duran i Reynals, Hospitalet de Llobregat Barcelona, Spain 2Department of Medical Genetics, University of Helsinki Finland 3Children's Hospital, University of Helsinki Finland 4Section of Clinical Genetics, University Hospital Rigshospitalet Kopenhagen, Denmark 5Clinical Genetics Unit, Royal Manchester Children's Hospital Pendlebury, Manchester 6Clinical Genetics Unit, Birmingham Maternity Hospital Edgbaston, Birmingham 7Institute of Medical Genetics, University Hospital of Wales Heath Park, Cardiff, UK 8Centre de Transfusion Sanguine Brest 9lnserm U 249, Institute de Biologie, Faculte de Medicin Montpellier, France 10Istituto di Science Biologicine, Universita de Verona Italy 11Department of Public Health and Cell Biology, IInd University of Rome and University of Rome and University of Urbino Italy 12 Department of Clinical Genetics, Institute of Obstetrics Sofia, Bulgaria |
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| Abstract: | ![]()
Positional cloning involves first finding linkage between aninherited phenotype (such as a disease) and a DNA marker, followedby the use of a variety of physical and genetic mapping techniquesto move from linkage to mutation. If there is a founder effectwithin a population, crossovers are often rare between the mutationcausing the phenotype and closely situated markers and increasingdisequilibrium may be observed as the site of the mutation isapproached. Standard coefficients of disequilibrium may, however,be insensitive to the relative position of close markers andthe mutation, because they depend upon allele frequencies inthe normal population compared to those of the founder chromosome.Using cystic fibrosis in European populations as a model system,alternative methods for determining the position of a mutationare discussed. These include hapiotype parsimony and three-wayinterval likelihood analysis. Both methods predict the locationof the major CF mutation accurately from a real set of morethan 600 European CF chromosomes. |
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