Genetic analysis of eight loci tightly linked to neurofibromatosis 1 |
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| Authors: | Karen Stephens Philip Green Vincent M Riccardi Siu Ng Marcia Rising David Barker John K Darby Kathleen M Falls Francis S Collins Huntington F Willard and Helen Donis-Keller |
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| Institution: | Department of Human Genetics, Collaborative Research, Inc., Bedford, MA 01730. |
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| Abstract: | The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17. |
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