Document Detail

DNA diagnosis of X-linked adrenoleukodystrophy.
MedLine Citation:
PMID:  9053554     Owner:  NLM     Status:  MEDLINE    
The X-linked adrenoleukodystrophy (ALD) gene was identified recently and is predicted to encode a 745-amino-acid peroxisomal membrane protein. Strategies have been designed for the search for mutations in the ALD gene in patients. Several mutations have now been found and it seems that many different mutations are responsible for ALD. There is no straightforward correlation between genotype and phenotype since the same mutation can cause different ALD phenotypes in the same family. However, once a mutation has been found in a family, it can be traced in all at-risk individuals of that family, both post- and prenatally, without the need for very long-chain fatty acid (VLCFA) analysis. Segregation analysis with extragenic and intragenic polymorphisms may remain useful in families where mutation analysis is not possible for practical reasons; VLCFA analysis and measurement of the peroxisomal beta-oxidation with C26:0 fatty acid as a substrate will remain the alternative. We also briefly discuss the possibilities of DNA diagnosis for other peroxisomal disorders.
S Seneca; W Lissens
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  18 Suppl 1     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1995  
Date Detail:
Created Date:  1997-03-13     Completed Date:  1997-03-13     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  34-44     Citation Subset:  IM    
Department of Medical Genetics, University Hospital-Vrije, Brussels, Belgium.
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MeSH Terms
Adrenoleukodystrophy / diagnosis*,  genetics*
DNA / analysis*
Linkage (Genetics)
Peroxisomal Disorders / diagnosis
X Chromosome*
Reg. No./Substance:

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