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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Haplotype analysis to determine the position of a mutation among closely linked DNA markers
Human Molecular Genetics, Volume 2, No. 7, Year 1993
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Description
Positional cloning involves first finding linkage between an inherited phenotype (such as a disease) and a DNA marker, followed by the use of a variety of physical and genetic mapping techniques to move from linkage to mutation. If there is a founder effect within a population, crossovers are often rare between the mutation causing the phenotype and closely situated markers and increasing disequilibrium may be observed as the site of the mutation is approached. Standard coefficients of disequilibrium may, however, be insensitive to the relative position of close markers and the mutation, because they depend upon allele frequencies in the 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 mutation are discussed. These include hapiotype parsimony and three-way interval likelihood analysis. Both methods predict the location of the major CF mutation accurately from a real set of more than 600 European CF chromosomes. © 1993 Oxford University Press.
Authors & Co-Authors
Ramsay, Michèle
United Kingdom, London
Imperial College London
Williamson, Roberts W.
United Kingdom, London
Imperial College London
Estivill, Xavier
United Kingdom, London
Imperial College London
Spain, Barcelona
Hospital Duran I Reynals
Wainwright, Brandon J.
United Kingdom, London
Imperial College London
Halford, Stephanie
United Kingdom, London
Imperial College London
Kere, Juha F.
United Kingdom, London
Imperial College London
Finland, Helsinki
Helsingin Yliopisto
Savilahti, Erkki M.
United Kingdom, London
Imperial College London
Finland, Helsinki
Children's Hospital Helsinki
De-La-Chapelle, Albert Dela
United Kingdom, London
Imperial College London
Finland, Helsinki
Helsingin Yliopisto
Super, Maurice
United Kingdom, London
Imperial College London
United Kingdom, Manchester
Royal Manchester Children's Hospital
Farndon, Peter A.
United Kingdom, London
Imperial College London
United Kingdom, Birmingham
Birmingham Women's Hospital
Féréc, Claude F.
United Kingdom, London
Imperial College London
Claustres, Mireille
France, Paris
Inserm
Casals, Teresa
United Kingdom, London
Imperial College London
Spain, Barcelona
Hospital Duran I Reynals
Gasparini, Paolo P.
Italy, Verona
Università Degli Studi Di Verona
Savoia, Anna
Italy, Verona
Università Degli Studi Di Verona
Pignatti, P. F.
Italy, Verona
Università Degli Studi Di Verona
Novelli, Giuseppe
Italy, Urbino
Università Degli Studi Di Urbino Carlo bo
Dallapiccola, Bruno
Italy, Urbino
Università Degli Studi Di Urbino Carlo bo
Kalaydjieva, Luba V.
Unknown Affiliation
Scambler, Peter James
United Kingdom, London
Imperial College London
Statistics
Citations: 24
Authors: 20
Affiliations: 11
Identifiers
Doi:
10.1093/hmg/2.7.1007
ISSN:
09646906
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study