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Titolo:
RECOMBINATION HOT-SPOT IN A 3.2-KB REGION OF THE CHARCOT-MARIE-TOOTH TYPE 1A REPEAT SEQUENCES - NEW TOOLS FOR MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND OF CHARCOT-MARIE-TOOTH TYPE 1A
Autore:
LOPES J; LEGUERN E; GOUIDER R; TARDIEU S; ABBAS N; BIROUK N; GUGENHEIM M; BOUCHE P; AGID Y; BRICE A; ARNEBES MC; BRICHET B; CHAPON F; CHAZOT G; CLAVELOU P; DESNUELLE C; DIRAISON P; DUBAS F; GONNAUD PM; HURTEVENT JF; KUNTZER T; LAGUENY A; MABIN D; MAYER M; OCHSNER F; OLLAGNONROMAN E; POUGET J; TABARAUD F; VALLAT JM; VANDENBERGHE A;
Indirizzi:
HOP LA PITIE SALPETRIERE,INSERM,U289,47 BLVD HOP F-75651 PARIS 13 FRANCE HOP LA PITIE SALPETRIERE,INSERM,U289 F-75651 PARIS 13 FRANCE HOP LA PITIE SALPETRIERE,FEDERAT NEUROL F-75651 PARIS 13 FRANCE HOP LA PITIE SALPETRIERE,SERV EXPLORAT FONCTIONNELLES NEUROL F-75651 PARIS 13 FRANCE
Titolo Testata:
American journal of human genetics
fascicolo: 6, volume: 58, anno: 1996,
pagine: 1223 - 1230
SICI:
0002-9297(1996)58:6<1223:RHIA3R>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
DISEASE TYPE-1A; GENE; DUPLICATION; MUTATION; PMP-22;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
J. Lopes et al., "RECOMBINATION HOT-SPOT IN A 3.2-KB REGION OF THE CHARCOT-MARIE-TOOTH TYPE 1A REPEAT SEQUENCES - NEW TOOLS FOR MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND OF CHARCOT-MARIE-TOOTH TYPE 1A", American journal of human genetics, 58(6), 1996, pp. 1223-1230

Abstract

Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathywith liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions ofthe same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal products of an unequal meiotic crossover between the twochromosome 17 homologues, caused by the misalignment of the CMT1A repeat sequences (CMT1A-REPs), the homologous sequences flanking the 1.5-Mb CMT1A/HNPP monomer unit. In order to map recombination breakpoints within the CMT1A-REPs, a 12.9-kb restriction map was constructed from cloned EcoRI fragments of the proximal and distal CMT1A-REPs. Only 3 of the 17 tested restriction sites were present in the proximal CMT1A-REP but absent in the distal CMT1A-REP, indicating a high degree of homology between these sequences. The rearrangements were mapped in four regions of the CMT1A-REPs by analysis of 76 CMT1A index cases and 38 HNPP patients, who where unrelated. A hot spot of crossover breakpoints, located in a 3.2-kb region, accounted for three-quarters of the rearrangements, detected after EcoRI/SacI digestion, by the presence of 3.2-kb and 7.8-kb junction fragments in CMT1A and HNPP patients, respectively. These junction fragments, which can be detected on classical Southern blots, permit molecular diagnosis. Other rearrangements can also be detected by gene dosage on the same Southern blots.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 03:27:49