Title: Unequal meiotic crossover: a frequent cause of NF1 microdeletions
Authors: López Correa, C ×
Brems, Hilde
Lázaro, C
Marynen, Peter
Legius, Eric #
Issue Date: Jan-2001
Series Title: American Journal of Human Genetics vol:66 issue:6 pages:1969-74
Abstract: Neurofibromatosis type 1 is a common autosomal dominant disorder caused by mutations of the NF1 gene on chromosome 17. In only 5%-10% of cases, a microdeletion including the NF1 gene is found. We analyzed a set of polymorphic dinucleotide-repeat markers flanking the microdeletion on chromosome 17 in a group of seven unrelated families with a de novo NF1 microdeletion. Six of seven microdeletions were of maternal origin. The breakpoints of the microdeletions of maternal origin were localized in flanking paralogous sequences, called "NF1-REPs." The single deletion of paternal origin was shorter, and no crossover occurred on the paternal chromosome 17 during transmission. Five of the six cases of maternal origin were informative, and all five showed a crossover, between the flanking markers, after maternal transmission. The observed crossovers flanking the NF1 region suggest that these NF1 microdeletions result from an unequal crossover in maternal meiosis I, mediated by a misalignment of the flanking NF1-REPs.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Clinical Genetics Section (-)
Laboratory for Neurofibromatosis Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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