Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis

Ornella Parolini, Andrea Perini, L. D. Notarangelo, G. Baiguini, F. Buzi, C. Paterlini, A. Perini, M. Rimoldi, S. Tiberti, G. Uziel, Lucia Notarangelo, G. Camerino, A. G. Ugazio

Risultato della ricerca: Contributo in rivistaArticolo in rivista

1 Citazioni (Scopus)

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
Lingua originaleEnglish
pagine (da-a)761-763
Numero di pagine3
RivistaEuropean Journal of Pediatrics
Volume151
DOI
Stato di pubblicazionePubblicato - 1992

Keywords

  • Adrenoleukodystrophy
  • DNA Probes
  • Fatty Acids
  • Female
  • Genetic Linkage
  • Heterozygote Detection
  • Humans
  • Male
  • Pedigree
  • X Chromosome

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