The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci

Caria Jodice; Marina Frontali; Francesca Persichetti; Andrea Novelletto; Massimo Pandolfo; Maria Spadaro; Paola Glunti; Gluseppe Schinala; Patrizia Lulli; Patrizia Malaspina; Rosaria Plasmati; Rosaria Tola; Antonella Antonelli; Stefano Dl Donato; Cristoforo Morocutti; Jean Welssenbach; Howard M. Cann; Luclano Terrenato

doi:10.1093/hmg/2.9.1383

The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci

Caria Jodice, Marina Frontali, Francesca Persichetti, Andrea Novelletto, Massimo Pandolfo, Maria Spadaro, Paola Glunti, Gluseppe Schinala, Patrizia Lulli, Patrizia Malaspina, Rosaria Plasmati, Rosaria Tola, Antonella Antonelli, Stefano Dl Donato, Cristoforo Morocutti, Jean Welssenbach, Howard M. Cann, Luclano Terrenato

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

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.

Lingua originale	Inglese
pagine (da-a)	1383-1387
Numero di pagine	5
Rivista	Human Molecular Genetics
Volume	2
Numero di pubblicazione	9
DOI	https://doi.org/10.1093/hmg/2.9.1383
Stato di pubblicazione	Pubblicato - set 1993
Pubblicato esternamente	Sì

Accesso al documento

10.1093/hmg/2.9.1383

Altri file e collegamenti

Link to publication in Scopus

Cita questo

Jodice, C., Frontali, M., Persichetti, F., Novelletto, A., Pandolfo, M., Spadaro, M., Glunti, P., Schinala, G., Lulli, P., Malaspina, P., Plasmati, R., Tola, R., Antonelli, A., Donato, S. D., Morocutti, C., Welssenbach, J., Cann, H. M., & Terrenato, L. (1993). The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci. Human Molecular Genetics, 2(9), 1383-1387. https://doi.org/10.1093/hmg/2.9.1383

@article{4a8fa54415084356bcfcb2e658ae8ac5,

title = "The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci",

abstract = "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.",

author = "Caria Jodice and Marina Frontali and Francesca Persichetti and Andrea Novelletto and Massimo Pandolfo and Maria Spadaro and Paola Glunti and Gluseppe Schinala and Patrizia Lulli and Patrizia Malaspina and Rosaria Plasmati and Rosaria Tola and Antonella Antonelli and Donato, {Stefano Dl} and Cristoforo Morocutti and Jean Welssenbach and Cann, {Howard M.} and Luclano Terrenato",

note = "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.).",

year = "1993",

month = sep,

doi = "10.1093/hmg/2.9.1383",

language = "English",

volume = "2",

pages = "1383--1387",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "9",

}

Jodice, C, Frontali, M, Persichetti, F, Novelletto, A, Pandolfo, M, Spadaro, M, Glunti, P, Schinala, G, Lulli, P, Malaspina, P, Plasmati, R, Tola, R, Antonelli, A, Donato, SD, Morocutti, C, Welssenbach, J, Cann, HM & Terrenato, L 1993, 'The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci', Human Molecular Genetics, vol. 2, n. 9, pagg. 1383-1387. https://doi.org/10.1093/hmg/2.9.1383

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 -

The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci

Abstract

Accesso al documento

Altri file e collegamenti

Fingerprint

Cita questo