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

Notarangelo, L. D., Parolini, O., Baiguini, G., Buzi, F., Paterlini, C., Perini, A., Rimoldi, M., Tiberti, S., Uziel, G., Notarangelo, L., Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis, <<EUROPEAN JOURNAL OF PEDIATRICS>>, 1992; 151 (10): 761-763. [doi:10.1007/BF01959086] [http://hdl.handle.net/10807/92568]

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

L D; Parolini;C; Perini;
1992

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
Inglese
Notarangelo, L. D., Parolini, O., Baiguini, G., Buzi, F., Paterlini, C., Perini, A., Rimoldi, M., Tiberti, S., Uziel, G., Notarangelo, L., Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis, <<EUROPEAN JOURNAL OF PEDIATRICS>>, 1992; 151 (10): 761-763. [doi:10.1007/BF01959086] [http://hdl.handle.net/10807/92568]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/92568
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