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Titolo:
QUANTIFICATION, BY SOLID-PHASE MINISEQUENCING, OF THE TELOMERIC AND CENTROMERIC COPIES OF THE SURVIVAL MOTOR-NEURON GENE IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY
Autore:
SCHWARTZ M; SORENSEN N; HANSEN FJ; HERTZ JM; NORBY S; TRANEBJAERG L; SKOVBY F;
Indirizzi:
UNIV COPENHAGEN HOSP,RIGSHOSP,JULIANE MARIE CTR,DEPT CLIN GENET DK-2100 COPENHAGEN DENMARK UNIV COPENHAGEN HOSP,RIGSHOSP,JULIANE MARIE CTR,DEPT PAEDIAT DK-2100 COPENHAGEN DENMARK AARHUS UNIV HOSP,DEPT CLIN GENET DK-8000 AARHUS DENMARK UNIV COPENHAGEN,INST FORENS MED DK-2100 COPENHAGEN DENMARK UNIV TROMSO HOSP,DEPT MED GENET N-9038 TROMSO NORWAY
Titolo Testata:
Human molecular genetics
fascicolo: 1, volume: 6, anno: 1997,
pagine: 99 - 104
SICI:
0964-6906(1997)6:1<99:QBSMOT>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
DELETIONS; LOCUS; INTERVAL; 5Q13; INDIVIDUALS; REFINEMENT; LINKAGE; REGION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
M. Schwartz et al., "QUANTIFICATION, BY SOLID-PHASE MINISEQUENCING, OF THE TELOMERIC AND CENTROMERIC COPIES OF THE SURVIVAL MOTOR-NEURON GENE IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY", Human molecular genetics, 6(1), 1997, pp. 99-104

Abstract

In an analysis of 30 families affected by spinal muscular atrophy (SMA) we have used the solid-phase minisequencing method to determine theratio between the number of telomeric and centromeric copies of the survival motor neuron gene (SMN and (c)BCD541 respectively) on normal and SMA chromosomes, This has enabled us to establish haplotypes with regard to SMN and (c)BCD541, and estimate their frequencies, on both types of chromosomes, Six predominant haplotypes were identified, three for normal chromosomes and three for SMA chromosomes, characterized byhaving 0, 1, or 2 copies, respectively, of (c)BCD541, We found evidence for the presence of patients homozygous for a deletion of SMN and with only one copy of (c)BCD541, but found none deleted for all copies of this gene. Several asymptomatic carriers of SMA with only a single copy of SMN and no copy of (c)BCD541 were identified, We could not confirm the hypothesis that the presence of more copies of (c)BCD541 is correlated to a less severe course of the disease, The frequencies of haplotypes characterized by having 0, 1, or 2 copies, respectively, of (c)BCD541 were found to differ significantly between normal and SMA chromosomes, This distribution can be explained by an underrepresentation of the haplotype completely lacking SMN genes, which is expected to cause early embryonic death in homozygotes. This first report of a direct haplotype analysis of SMN and (c)BCD541 should help clarify the role of (c)BCD541 in the pathogenesis of SMA.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/06/20 alle ore 23:29:31