Abstract
Adrenoleukodystrophy (ALD) is an X-linked genetic peroxisomal disorder in which phenotype may be strictly limited to Addison's disease. Though there is circumstantial evidence that the primary defect involves lignoceryl-CoA-synthetase, the precise gene involved has not yet been identified. Both ALD and red/green color blindness (CBD) have been mapped to the distal long arm of the X chromosome (Xq2-8). We have studied 13 French ALD kindreds and found visual pigment genes reorganization and/or deletion in 8 of 13 kindreds (60%) as opposed to the 8% expected. Such changes may reflect chromosomal events underlying both ALD and CBD genes. A physical map is clearly needed to understand the reorganization of this region in ALD patients and will constitute a first step to approach the ALD gene by “chromosome walking” or “jumping”. High molecular weight genomic DNA digested with a number of restriction enzymes that cut infrequently was separated by pulse field gel electrophoresis and hybridized to cDNA and anonymous genomic probes that derive from Xq2-8. Preliminary results suggest that ALD gene lies between coagulation Factor VIII and CBD genes at a distance of less than 150 kb from CBD.
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Aubourg, P., Guidoux, S. & Chaussain, J. 18 LARGE SCALE PHYSICAL MAPPING OF THE REGION SURROUNDING THE ADRENOLEUKODYSTROPHY GENE. Pediatr Res 24, 520 (1988). https://doi.org/10.1203/00006450-198810000-00039
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DOI: https://doi.org/10.1203/00006450-198810000-00039