Evidence for the Presence of the Second Allele of the Neurofibromatosis Type 1 Gene in Melanocytes Derived from Café au Lait Macules of NF1 Patients

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder caused by mutations in the NF1 gene on 17q11.2. Melanocytes cultured from café au lait macules (CALM) of patients with NF1 were analysed for loss of heterozygosity (LOH) at the NF1 locus using a 3′-flanking and four intrage...

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Published inBiochemical and biophysical research communications Vol. 237; no. 1; pp. 138 - 141
Main Authors Eisenbarth, Ingrid, Assum, Günter, Kaufmann, Dieter, Krone, Winfrid
Format Journal Article
LanguageEnglish
Published Elsevier Inc 08.08.1997
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Summary:Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder caused by mutations in the NF1 gene on 17q11.2. Melanocytes cultured from café au lait macules (CALM) of patients with NF1 were analysed for loss of heterozygosity (LOH) at the NF1 locus using a 3′-flanking and four intragenic markers. None of the informative samples showed LOH. In addition, the X-inactivation pattern of melanocytes from CALM (n = 4) and from the unaffected skin of the patients (n = 3) suggests a monoclonal origin of the cells isolated from skin biopsies up to 2 cm2in size.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1997.7097