Titre du document / Document title
Linkage disequilibrium mapping of the cornea plana congenita gene CNA2
Auteur(s) / Author(s)
TAHVANAINEN E.
(1) ;
FORSIUS H. ;
DAMSTEN M. ;
KARILA E.
(1) ;
KOLEHMAINEN J.
(1) ;
WEISSENBACH J.
(2) ;
SISTONEN P. ;
DE LA CHAPELLE A.
(1) ;
Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)
(1) Univ. Helsinki, dep. medical genetics, 00014 Helsinki, FINLANDE
(2) Généthon, 91000 Evry, FRANCE
Résumé / Abstract
We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2 ; MIM No. 217300) by linkage analysis to the approximately 3-cM interval between markers D12S82 and D12S327. Here, we extended these studies by exploiting the haplotype and linkage disequilibrium information that can be derived from the genetically isolated Finnish population and its subpopulations. By testing 32 independent families with 10 polymorphic markers in the CNA2 interval, strong allelic association between CNA2 and a set of markers with a peak at marker D12S351 was detected. Based on linkage disequilibrium analysis, the critical region for CNA2 could be narrowed to only 0.04-0.3 cM from marker D12S351, thus defining a critical interval 0.08-0.60 cM in length These results provide a basis for highly focused positional cloning of CNA2.
Revue / Journal Title
Genomics
ISSN 0888-7543
Source / Source
1995, vol. 30, n
o3, pp. 409-414 (18 ref.)
Langue / Language
Anglais
Editeur / Publisher
Elsevier, San Diego, CA, ETATS-UNIS
(1987)
(Revue)
Mots-clés anglais / English Keywords
Human ;
Chromosome C12 ;
Genetic mapping ;
Linkage equilibrium ;
Genetic marker ;
Polymorphism ;
Finland ;
Geographical variation ;
Haplotype ;
Cornea plana ;
Europe ;
Eye disease ;
Keratopathy ;
Congenital disease ;
Genetic disease ;
Mots-clés français / French Keywords
Homme ;
Chromosome C12 ;
Carte génétique ;
Equilibre linkage ;
Marqueur génétique ;
Polymorphisme ;
Finlande ;
Variation géographique ;
Haplotype ;
Cornea plana ;
Europe ;
Oeil pathologie ;
Kératopathie ;
Maladie congénitale ;
Maladie héréditaire ;
Mots-clés espagnols / Spanish Keywords
Hombre ;
Cromosoma C12 ;
Mapa genético ;
Equilibrio ligazón ;
Marcador genético ;
Polimorfismo ;
Finlandia ;
Variación geográfica ;
Haplotipo ;
Córnea plana ;
Europa ;
Ojo patología ;
Queratopatía ;
Enfermedad congénita ;
Enfermedad hereditaria ;
Localisation / Location
INIST-CNRS, Cote INIST : 21389, 35400005547378.0010
Nº notice refdoc (ud4) : 2948896
