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Titolo:
IDENTIFICATION OF MUTATIONS IN THE ALD-GENE OF 20 FAMILIES WITH ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY
Autore:
KRASEMANN EW; MEIER V; KORENKE GC; HUNNEMAN DH; HANEFELD F;
Indirizzi:
UNIV GOTTINGEN,INST HUMANGENET,GOSSLERSTR 12D D-37073 GOTTINGEN GERMANY UNIV GOTTINGEN,SCHWERPUNKT NEUROPADIATRIE,ABT KINDERHEILKUNDE,KINDERKLIN GOTTINGEN GERMANY
Titolo Testata:
Human genetics
fascicolo: 2, volume: 97, anno: 1996,
pagine: 194 - 197
SICI:
0340-6717(1996)97:2<194:IOMITA>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-LINKED ADRENOLEUKODYSTROPHY; FIBROSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
E.W. Krasemann et al., "IDENTIFICATION OF MUTATIONS IN THE ALD-GENE OF 20 FAMILIES WITH ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY", Human genetics, 97(2), 1996, pp. 194-197

Abstract

Adrenoleukodystrophy (ALD), an X-linked inherited metabolic disorder,is the most frequent inborn peroxisomal disease. It leads to demyelination in the central and peripheral nervous system. Defective beta-oxidation of saturated very long chain fatty acids (VLCFAs; C22:0-C26:0) in peroxisomes has been shown to lead to an accumulation of VLCFAs in leukoid areas of the central nervous system, peripheral nerves, adrenal land, and blood. The ALD gene has been recently identified and encodes a 745-amino-acid protein. We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN) from 20 kindreds for mutations in the ALD gene. Eleven missense and two nonsense mutations. five deletions, and one insertion were detected by direct sequencing of eight reverse transcribed fragments of the ALD-gene mRNA. Four mutations couldbe shown to be de novo. All mutations could be confirmed in carriers by sequencing genomic DNA. No correlation between the type of mutationand the severity of the phenotype could be observed. The mutations were not detected in the ALD gene of 30 healthy persons.

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Documento generato il 01/10/20 alle ore 03:45:47