Idioma:

Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population

Pianese, L ; Cocozza, S ; Campanella, G ; Castaldo, I ; Cavalcanti, F ; De Michele, G ; Filla, A ; Monticelli, A ; Munaro, M ; Redolfi, E

Journal of medical genetics, 1994-02, Vol.31 (2), p.133-135 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por

Enviar para

Título:
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population
Autor: Pianese, L ; Cocozza, S ; Campanella, G ; Castaldo, I ; Cavalcanti, F ; De Michele, G ; Filla, A ; Monticelli, A ; Munaro, M ; Redolfi, E
Assuntos: Base Sequence ; Biological and medical sciences ; Chromosome Mapping ; Chromosomes, Human, Pair 9 ; Consanguinity ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA - analysis ; Friedreich Ataxia - epidemiology ; Friedreich Ataxia - genetics ; Genetic Markers ; Haplotypes ; Homozygote ; Humans ; Italy - epidemiology ; Linkage Disequilibrium ; Medical sciences ; Molecular Sequence Data ; Neurology ; Polymorphism, Genetic
É parte de: Journal of medical genetics, 1994-02, Vol.31 (2), p.133-135
Notas: istex:1F4656DFD1010FD705B82F130A89E79BC8012096
local:jmedgenet;31/2/133
href:jmedgenet-31-133.pdf
PMID:8182719
ark:/67375/NVC-TSND2DKQ-2
Descrição: 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.
Editor: London: BMJ Publishing Group Ltd
Idioma: Inglês

Links

Voltar para lista de resultados

Anterior Resultado 9 Avançar Ir para próxima página

Realização: Logos de Redes Sociais:

Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population

Pianese, L ; Cocozza, S ; Campanella, G ; Castaldo, I ; Cavalcanti, F ; De Michele, G ; Filla, A ; Monticelli, A ; Munaro, M ; Redolfi, E

London: BMJ Publishing Group Ltd

Buscando em bases de dados remotas. Favor aguardar.