title: Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.
abstract: We used two recently described genetic markers in the region of the Friedreich's ataxia locus to study 33 affected pedigrees from central-southern regions of Italy. These markers are predicted, by physical mapping, to be localised more closely to the Friedreich's ataxia locus than other previously described markers. No recombination was found between these markers and the disease locus. Strong linkage disequilibrium is present between the compound haplotype and the disease locus. Since this population was also previously studied by using three other more distal genetic markers, a total of five markers has been used to identify the extended haplotype. Homozygosity in consanguineous pedigrees was also studied. Extended haplotype analysis and homozygosity studies suggest the presence of few common disease causing mutations in our population.
authors.affiliation: Dipartimento di Biologia e Patologia Cellulare e Molecolare CEOS, CNR Università degli Studi di Napoli, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Pianese
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
authors.forename: G
authors.initials: G
authors.lastname: Campanella
authors.forename: I
authors.initials: I
authors.lastname: Castaldo
authors.forename: F
authors.initials: F
authors.lastname: Cavalcanti
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: A
authors.initials: A
authors.lastname: Filla
authors.forename: A
authors.initials: A
authors.lastname: Monticelli
authors.forename: M
authors.initials: M
authors.lastname: Munaro
authors.forename: E
authors.initials: E
authors.lastname: Redolfi
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003241:Consanguinity; D004247:DNA / Q000032:analysis; D005621:Friedreich Ataxia / Q000453:epidemiology / Q000235:genetics*; D005819:Genetic Markers; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers; D004247:DNA