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Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

✍ Scribed by Karen Stephens; Lucille Kayes; Vincent M. Riccardi; Marcia Rising; Virginia P. Sybert; Roberta A. Pagon

Book ID: 104659583
Publisher: Springer
Year: 1992
Tongue: English
Weight: 445 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00197259

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✦ Synopsis

An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1 x 10 -4 per gamete per generation. The molecular basis for frequent NFI mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occurred on the paternally-derived chromosome. The probability of observing this result by chance is less than 0.001 assuming an equal frequency of mutation of paternal and maternal NF1 genes. We hypothesize a role for genomic imprinting that may either enhance mutation of the paternal NF1 gene or confer protection from mutation to the maternal NF1 gene.

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