Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from cafe au lait macules of NF1 patients

被引:23
作者
Eisenbarth, I
Assum, G
Kaufmann, D
Krone, W
机构
[1] Abteilung Humangenetik, Universität Ulm, D-89070 Ulm
关键词
D O I
10.1006/bbrc.1997.7097
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder caused by mutations in the NF1 gene on 17q11.2. Melanocytes cultured from cafe 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 cm(2) in size. (C) 1997 Academic Press.
引用
收藏
页码:138 / 141
页数:4
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