title: Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis.
abstract: Diagnosis of X-linked adrenoleukodystrophy is based upon demonstration of high levels of very long chain fatty acids. More recently, in addition to biochemical analysis, closely linked DNA probe St14 has been used for prenatal diagnosis in informative families. Identification of heterozygotes is particularly important, both in order to specifically address only carrier females to prenatal diagnosis, and because appropriate dietary therapy is now available to treat those heterozygotes presenting with neurological symptoms. We report two pedigrees in which carrier detection was performed by a combination of biochemical and molecular genetic analysis. Such approach should allow extremely high accuracy in carrier detection.
authors.affiliation: Department of Paediatrics, University of Brescia, Italy.
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: O
authors.initials: O
authors.lastname: Parolini
authors.forename: G
authors.initials: G
authors.lastname: Baiguini
authors.forename: F
authors.initials: F
authors.lastname: Buzi
authors.forename: C
authors.initials: C
authors.lastname: Paterlini
authors.forename: A
authors.initials: A
authors.lastname: Perini
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: S
authors.initials: S
authors.lastname: Tiberti
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: L
authors.initials: L
authors.lastname: Notarangelo
mesh_terms: D000326:Adrenoleukodystrophy / Q000097:blood* / Q000235:genetics*; D015342:DNA Probes / Q000032:analysis; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005227:Fatty Acids