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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)761-763
Number of pages3
JournalEuropean Journal of Pediatrics
Volume151
Issue number10
DOIs
Publication statusPublished - Oct 1992

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Adrenoleukodystrophy
Heterozygote
Prenatal Diagnosis
Molecular Biology
Fatty Acids
DNA Probes
Pedigree
Therapeutics

Keywords

  • Adrenoleukodystrophy
  • Carrier detection
  • DNA probe
  • Very long chain fatty acids

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Notarangelo, L. D., Parolini, O., Baiguini, G., Buzi, F., Paterlini, C., Perini, A., ... Ugazio, A. G. (1992). Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis. European Journal of Pediatrics, 151(10), 761-763. https://doi.org/10.1007/BF01959086

Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis. / Notarangelo, L. D.; Parolini, O.; Baiguini, G.; Buzi, F.; Paterlini, C.; Perini, A.; Rimoldi, M.; Tiberti, S.; Uziel, G.; Notarangelo, Lucia; Camerino, G.; Ugazio, A. G.

In: European Journal of Pediatrics, Vol. 151, No. 10, 10.1992, p. 761-763.

Research output: Contribution to journalArticle

Notarangelo, LD, Parolini, O, Baiguini, G, Buzi, F, Paterlini, C, Perini, A, Rimoldi, M, Tiberti, S, Uziel, G, Notarangelo, L, Camerino, G & Ugazio, AG 1992, 'Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis', European Journal of Pediatrics, vol. 151, no. 10, pp. 761-763. https://doi.org/10.1007/BF01959086
Notarangelo, L. D. ; Parolini, O. ; Baiguini, G. ; Buzi, F. ; Paterlini, C. ; Perini, A. ; Rimoldi, M. ; Tiberti, S. ; Uziel, G. ; Notarangelo, Lucia ; Camerino, G. ; Ugazio, A. G. / Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis. In: European Journal of Pediatrics. 1992 ; Vol. 151, No. 10. pp. 761-763.
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