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Titolo:
LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE
Autore:
BURGHES AHM; INGRAHAM SE; KOTEJARAI Z; ROSENFELD S; HERTA N; NADKARNI N; DIDONATO CJ; CARPTEN J; HURKO O; FLORENCE J; MOXLEY RT; COBBEN JM; MENDELL JR;
Indirizzi:
OHIO STATE UNIV,COLL MED,DEPT NEUROL,452 MEANS HALL,1654 UPHAM DR COLUMBUS OH 43210 OHIO STATE UNIV,COLL MED,DEPT MED BIOCHEM COLUMBUS OH 43210 OHIO STATE UNIV,COLL BIOL SCI,DEPT MOLEC GENET COLUMBUS OH 43210 JOHNS HOPKINS UNIV,SCH MED,DEPT NEUROL BALTIMORE MD 21205 WASHINGTON UNIV,DEPT NEUROL ST LOUIS MO 63130 UNIV ROCHESTER,DEPT NEUROL ROCHESTER NY 14627 UNIV GRONINGEN,DEPT MED GENET GRONINGEN NETHERLANDS
Titolo Testata:
Human genetics
fascicolo: 3, volume: 93, anno: 1994,
pagine: 305 - 312
SICI:
0340-6717(1994)93:3<305:LMOTSM>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
SMA LOCUS; CHROMOSOME-5Q11.2-13.3; POLYMORPHISMS; DYSTROPHY; FAMILIES; D5S39;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
36
Recensione:
Indirizzi per estratti:
Citazione:
A.H.M. Burghes et al., "LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE", Human genetics, 93(3), 1994, pp. 305-312

Abstract

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Z(max) = 10.04 at theta = 0 excluding two unlinked families, and Z(max) = 8.77 at theta = 0.007 with all families). One type III familydid not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closest centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/07/20 alle ore 06:44:46