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Titolo:
MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS
Autore:
BRAHE C; VELONA I; VANDERSTEEGE G; ZAPPATA S; VANDEVEEN AY; OSINGA J; TOPS CMJ; FODDE R; KHAN PM; BUYS CHCM; NERI G;
Indirizzi:
CATHOLIC UNIV SACRED HEART,A GEMELLI SCH MED,INST MED GENET,LARGO F VITO 1 I-00168 ROME ITALY UNIV GRONINGEN,DEPT MED GENET GRONINGEN NETHERLANDS LEIDEN UNIV,DEPT HUMAN GENET,SYLVIUS LAB 2300 RA LEIDEN NETHERLANDS
Titolo Testata:
Human genetics
fascicolo: 5, volume: 93, anno: 1994,
pagine: 494 - 501
SICI:
0340-6717(1994)93:5<494:MO2NMW>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
INSITU HYBRIDIZATION; DNA-SEQUENCES; CHROMOSOME-5; POLYMORPHISMS; REGION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
C. Brahe et al., "MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS", Human genetics, 93(5), 1994, pp. 494-501

Abstract

The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recently been mapped to an area of 2-3 Mb in theregion q12-q13.3 of chromosome 5. We have used a series of radiation hybrids (RHs) containing distinct parts of the SMA region as defined by reference markers. A cosmid library was constructed from one RH. Thirteen clones were isolated and five of these were mapped within the SMA region. Both RH mapping and fluorescence in situ hybridization analysis showed that two clones map in the region between loci D5S125 and D5S351. One of the cosmids contains expressed sequences. Polymorphic dinucleotide repeats were identified in both clones and used for segregation analysis of key recombinant SMA families. One recombination between the SMA locus and the new marker 9Ic (D5S685) indicates that 9Ic isprobably the closest distal marker. The absence of recombination between the SMA locus and marker Fc (D5S684) suggests that Fe is located close to the disease gene. These new loci should refine linkage analysis in SMA family studies and may facilitate the isolation of the disease gene.

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Documento generato il 28/11/20 alle ore 09:53:06