title: Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe.
abstract: Segregation studies of X-linked adrenoleukodystrophy (ALD) and a cloned desoxyribonucleic fragment (factor VIII gene), which detects polymorphism in the distal end of the long arm of the X chromosome (Xq28), are reported in a large sibship ALD family. The findings should permit better identification of carriers and add a new marker for identifying the ALD gene itself.
mesh_terms: D000326:Adrenoleukodystrophy / Q000097:blood / Q000235:genetics*; D000483:Alleles; D004247:DNA / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005230:Fatty Acids, Nonesterified / Q000097:blood*; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D005230:Fatty Acids, Nonesterified; D005169:Factor VIII; D004247:DNA