Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1 Ingrid Eisenbarth, Kim Beyer, Winfrid.

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Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1 Ingrid Eisenbarth, Kim Beyer, Winfrid Krone, Günter Assum The American Journal of Human Genetics Volume 66, Issue 2, Pages 393-401 (February 2000) DOI: 10.1086/302747 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Distribution of PTT fragments over the coding region of the NF1 gene and relative position of premature stop codons that have been found in neurofibromas. Constitutional mutations are italicized. The American Journal of Human Genetics 2000 66, 393-401DOI: (10.1086/302747) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Protein gel loaded with translation products of PTT fragment 5 derived from various neurofibromas of NF1 patients and cells of a healthy individual (C) NF260-1, NF282-1 and NF282-2 show a truncated peptide derived from this part of the NF1 gene (arrows). PTT analysis was done in duplicate for NF56-1 to show the reproducibility of the peptide patterns. The American Journal of Human Genetics 2000 66, 393-401DOI: (10.1086/302747) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Agarose gel electrophoresis of TaqI-digested PCR-products derived from patient NF56. The genomic region of the NF1 gene harboring the constitutional mutation of patient NF56 was amplified with primers PI8H and PI9R. The wild-type allele can be completely digested, as shown in the control lane (C), the product from the mutant allele remains uncut. Although both products are visible with equal intensities in blood and tumor 1, tumor 2 reveals a stronger signal of the mutant allele, indicating loss of the wild-type allele in a portion of the tumor tissue. The difference in migration patterns between the length marker and PCR products is caused by the restriction buffer present in the samples. The American Journal of Human Genetics 2000 66, 393-401DOI: (10.1086/302747) Copyright © 2000 The American Society of Human Genetics Terms and Conditions