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Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes |
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| Authors: | Karen Stephens Lucille Kayes Vincent M Riccardi Marcia Rising Virginia P Sybert Roberta A Pagon |
| Institution: | (1) Department of Medicine, University of Washington School of Medicine, 98195 Seattle, WA, USA;(2) Neurofibromatosis Institute, Inc., 91105 Alfigen, Pasadena, CA, USA;(3) Collaborative Research, Inc., 01730 Bedford, MA, USA;(4) Department of Pediatrics, University of Washington School of Medicine, 98105 Seattle, WA, USA;(5) Division of Medical Genetics, Children's Hospital and Medical Center, 98105 Seattle, WA, USA;(6) Department of Medicine, Division of Medical Genetics RG-25, University of Washington, 98195 Seattle, WA, USA |
| Abstract: | Summary An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1×10–4 per gamete per generation. The molecular basis for frequent NF1 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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