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Titolo:
METACHROMATIC LEUKODYSTROPHY - IDENTIFICATION OF THE FIRST DELETION IN EXON-1 AND OF 9 NOVEL POINT MUTATIONS IN THE ARYLSULFATASE-A GENE
Autore:
DRAGHIA R; LETOURNEUR F; DRUGAN C; MANICOM J; BLANCHOT C; KAHN A; POENARU L; CAILLAUD C;
Indirizzi:
UNIV PARIS 05,CHU COCHIN PORT ROYAL,GENET LAB,U129 INSERM F-75270 PARIS 06 FRANCE UNIV PARIS 05,CHU COCHIN PORT ROYAL,GENET LAB,U129 INSERM F-75270 PARIS 06 FRANCE INST FOURNIER F-75014 PARIS FRANCE
Titolo Testata:
Human mutation
fascicolo: 3, volume: 9, anno: 1997,
pagine: 234 - 242
SICI:
1059-7794(1997)9:3<234:ML-IOT>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHEMICAL MISMATCH CLEAVAGE; POLYMERASE CHAIN-REACTION; TAY-SACHS-DISEASE; DNA-POLYMERASE; CDNA CLONING; A GENE; EXPRESSION; TRANSITIONS; SULFATASE; SPECTRUM;
Keywords:
METACHROMATIC LEUKODYSTROPHY; ARYLSULFATASE A; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
33
Recensione:
Indirizzi per estratti:
Citazione:
R. Draghia et al., "METACHROMATIC LEUKODYSTROPHY - IDENTIFICATION OF THE FIRST DELETION IN EXON-1 AND OF 9 NOVEL POINT MUTATIONS IN THE ARYLSULFATASE-A GENE", Human mutation, 9(3), 1997, pp. 234-242

Abstract

Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA), is inherited as an autosomal recessive trait, and its frequency is estimated to be 1 in 40,000live births. Genomic DNA from 21 MLD patients (14 late infantile and 7 juvenile cases) was amplified in four overlapping PCR fragments and tested by allele specific oligonucleotide (ASO) for the two common mutations 459 + 1G-->A and P426L. These mutations were found in only 28.6% of the alleles studied. The remaining alleles were analyzed by chemical mismatch cleavage (CMC) and automatic sequencing, In addition to five previously reported mutations (459 + 1G-->A, A212V, R244C, R390W, P426L), 10 novel mutations were identified: 9 missense mutations (S95N, G119R, D152Y, R244H, S250Y, A314T, R384C, R496H, K367N) and one 8 bpdeletion in exon 1, the first mutation reported in this exon. These methods allowed us to identify 76% of the alleles tested. Genotype phenotype correlations could be established for some of these mutations, These results confirm the heterogeneity of mutations causing MLD and suggest that CMC is a reliable and informative screening method for point mutation detection in the arylsulfatase A gene. (C) 1997 Wiley-Liss,Inc.

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Documento generato il 01/04/20 alle ore 20:39:40