caa a22 4500 467984514 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900601xx s 000 0 eng 10.1007/BF00276318 doi (NATIONALLICENCE)springer-10.1007/BF00276318 The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17 [Elektronische Daten] [S.-M. Pulst, J. Graham Jr., P. Fain, D. Barker, T. Pribyl, J. Korenberg] Summary: We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence of both NF1 and ACH. Since the chance of de novo occurrence of these two disorders in one individual is 1 in 600 million, this suggested a chromosomal deletion as a single unifying molecular event and also that the ACH and NF1 loci might be physically close. To test this, we performed linkage analysis on a three-generation family with ACH. We used seven DNA probes that are tightly linked to the NF1 locus, including DNA sequences that are known to flank the NF1 locus on the centromeric and telomeric side. We detected two recombinants between the ACH trait and markers flanking the NF1 locus. In one recombinant, the flanking markers themselves were nonrecombinant. Multi-point linkage analysis excluded the ACH locus from a region surrounding the NF1 locus that spans more than 15cM (lod score < -2). Therefore, analysis of this ACH pedigree suggests that the ACH locus is not linked to the NF1 locus on chromosome 17. Springer-Verlag, 1990 Pulst S.-M Division of Neurology, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut Graham Jr. J. Division of Medical Genetics, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut Fain P. Department of Medical Informatics, University of Utah School of Medicine, 84108, Salt Lake City, UT, USA aut Barker D. Department of Medical Informatics, University of Utah School of Medicine, 84108, Salt Lake City, UT, USA aut Pribyl T. Division of Medical Genetics, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut Korenberg J. Division of Medical Genetics, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut Human Genetics Springer-Verlag 85/1(1990-06-01), 12-14 0340-6717 85:1<12 1990 85 439 https://doi.org/10.1007/BF00276318 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00276318 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pulst S.-M Division of Neurology, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut NATIONALLICENCE 700 1- Graham Jr J. Division of Medical Genetics, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut NATIONALLICENCE 700 1- Fain P. Department of Medical Informatics, University of Utah School of Medicine, 84108, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Barker D. Department of Medical Informatics, University of Utah School of Medicine, 84108, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Pribyl T. Division of Medical Genetics, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut NATIONALLICENCE 700 1- Korenberg J. Division of Medical Genetics, Cedars-Sinai Medical Center, University of California, 90048, Los Angeles, CA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/1(1990-06-01), 12-14 0340-6717 85:1<12 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer