TY - JOUR
T1 - The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci
AU - Jodice, Caria
AU - Frontali, Marina
AU - Persichetti, Francesca
AU - Novelletto, Andrea
AU - Pandolfo, Massimo
AU - Spadaro, Maria
AU - Glunti, Paola
AU - Schinala, Gluseppe
AU - Lulli, Patrizia
AU - Malaspina, Patrizia
AU - Plasmati, Rosaria
AU - Tola, Rosaria
AU - Antonelli, Antonella
AU - Donato, Stefano Dl
AU - Morocutti, Cristoforo
AU - Welssenbach, Jean
AU - Cann, Howard M.
AU - Terrenato, Luclano
N1 - Funding Information:
The presentresearchwas supported by C.N.R., Italy, P.F. 'Ingegneria Genetica' (M.F.) and contract 00448.PF99 (A.N.); P.F. 'Biotecnologia e Biostrumentazione' contract 91.01244.PF70 (L.T.); by the Instkut National de la Ststi. e de la Recherche Medical (INSERM) and by the Association Francaise cootre les Myopathies (H.M.C.); by a Telethon grant (M.F.).
PY - 1993/9
Y1 - 1993/9
N2 - The gene for one form of autosomal dominant spinal cerebellar ataxia (SCA1), Is mapped by linkage to chromosome 6p, very close to the microsatellite locus D6S89. Eight large Italian kindreds segregating SCA1, as defined by very close linkage to D6S89, were genotyped with five microsatellite markers linked closely to D6S89, all mapping within a 6 cM Interval on 6p. Multipoint linkage analysis and haplotypes from recombinants map SCA1 between two of these markers, D6S274, and D6S259, 5 - 6 cM apart. A single rare four marker haplotype within this Interval shows linkage disequilibrium with the disease locus in southern Italy and is transmitted with SCA1 In five kindreds originating from this area.
AB - The gene for one form of autosomal dominant spinal cerebellar ataxia (SCA1), Is mapped by linkage to chromosome 6p, very close to the microsatellite locus D6S89. Eight large Italian kindreds segregating SCA1, as defined by very close linkage to D6S89, were genotyped with five microsatellite markers linked closely to D6S89, all mapping within a 6 cM Interval on 6p. Multipoint linkage analysis and haplotypes from recombinants map SCA1 between two of these markers, D6S274, and D6S259, 5 - 6 cM apart. A single rare four marker haplotype within this Interval shows linkage disequilibrium with the disease locus in southern Italy and is transmitted with SCA1 In five kindreds originating from this area.
UR - http://www.scopus.com/inward/record.url?scp=0027257734&partnerID=8YFLogxK
U2 - 10.1093/hmg/2.9.1383
DO - 10.1093/hmg/2.9.1383
M3 - Article
SN - 0964-6906
VL - 2
SP - 1383
EP - 1387
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 9
ER -