Two large Italian pedigrees with HLA-linked spinocerebellar ataxia (SCA1) were typed for HLA-A, -B and -DR as well as for markers either distal (F13A, D6S8) or proximal (D6S29, GLO1) to HLA. Pairwise linkage analyses of SCA1 vs. HLA-A, -B and -DR showed peak lodscores of 5.3, 5.6 and 3.3 respectively at 7% recombination. Negative lodscores significantly excluded linkage with F13A at less than 5% and with GLO1 at less than 10%. The lodscores with D6S8 and D6S29 had only low peaks. Recombination events in the two pedigrees and the estimated genetic distances of SCA1 from GLO1 and HLA favour the hypothesis of a SCA1 location distal to both of them. An order cen-GLO1-HLA-SCA1-tel appears therefore most likely with present data. These results are discussed in relation to previous reports placing SCA1 distal to HLA in two families and proximal in another.

Frontali, M., Iodice, C., Lulli, P., Spadaro, M., Cappellacci, S., Giunti, P., et al. (1991). SPINOCEREBELLAR ATAXIA (SCA1) IN 2 LARGE ITALIAN KINDREDS - EVIDENCE IN FAVOR OF A LOCUS POSITION DISTAL TO GLO1 AND THE HLA CLUSTER. ANNALS OF HUMAN GENETICS, 55(1), 7-15 [10.1111/j.1469-1809.1991.tb00393.x].

SPINOCEREBELLAR ATAXIA (SCA1) IN 2 LARGE ITALIAN KINDREDS - EVIDENCE IN FAVOR OF A LOCUS POSITION DISTAL TO GLO1 AND THE HLA CLUSTER

IODICE, CARLA;MALASPINA, PATRIZIA;NOVELLETTO, ANDREA;TERRENATO, LUCIANO
1991-01-01

Abstract

Two large Italian pedigrees with HLA-linked spinocerebellar ataxia (SCA1) were typed for HLA-A, -B and -DR as well as for markers either distal (F13A, D6S8) or proximal (D6S29, GLO1) to HLA. Pairwise linkage analyses of SCA1 vs. HLA-A, -B and -DR showed peak lodscores of 5.3, 5.6 and 3.3 respectively at 7% recombination. Negative lodscores significantly excluded linkage with F13A at less than 5% and with GLO1 at less than 10%. The lodscores with D6S8 and D6S29 had only low peaks. Recombination events in the two pedigrees and the estimated genetic distances of SCA1 from GLO1 and HLA favour the hypothesis of a SCA1 location distal to both of them. An order cen-GLO1-HLA-SCA1-tel appears therefore most likely with present data. These results are discussed in relation to previous reports placing SCA1 distal to HLA in two families and proximal in another.
1991
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/18 - GENETICA
English
Con Impact Factor ISI
MULTILOCUS LINKAGE ANALYSIS; HUMAN CHROMOSOME-6; HEREDITARY ATAXIA; CEREBELLAR-ATAXIA; FACTOR-XIIIA; SHORT ARM; POLYMORPHISM; POPULATION; ONSET; F13A
9
Frontali, M., Iodice, C., Lulli, P., Spadaro, M., Cappellacci, S., Giunti, P., et al. (1991). SPINOCEREBELLAR ATAXIA (SCA1) IN 2 LARGE ITALIAN KINDREDS - EVIDENCE IN FAVOR OF A LOCUS POSITION DISTAL TO GLO1 AND THE HLA CLUSTER. ANNALS OF HUMAN GENETICS, 55(1), 7-15 [10.1111/j.1469-1809.1991.tb00393.x].
Frontali, M; Iodice, C; Lulli, P; Spadaro, M; Cappellacci, S; Giunti, P; Malaspina, P; Morellini, M; Morocutti, C; Novelletto, A; Persichetti, F; Trabace, S; Anastasi, R; Terrenato, L
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/44038
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