| Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. | |
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MedLine Citation:
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PMID: 2491784 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In addition to reporting, in accompanying papers, their individual analyses of mapping the neurofibromatosis type 1 (NF1) gene on chromosome 17, members of the International Consortium for NF1 Linkage contributed their data for our joint analysis to determine the exact sequence of flanking markers and to obtain precise estimates and confidence limits of the recombination fractions for the closest markers, in anticipation of clinical use. With specimens from 142 families and more than 700 affected persons, eight teams used 31 markers in the pericentric region of chromosome 17 to perform 13,838 genotypings. With the combined data, we used the computer program CRI-MAP to build the most likely sequence of loci by sequentially adding single loci to a fixed pair of loci and separately calculating the likelihood of all permutations of four consecutive loci. The best order is pter-pA10-41-EW301-centromere (p17H8)-pHHH202-NF1-EW206-EW207-EW203++ +-CRI-L581-CRI-L946-HOX2-NGFR-qter. The total genetic distance from pA10-41 to NGFR is 26 cM in males and 56 cM in females, and the overall difference in sex-specific maps is statistically significant (P = .006). The upper 99% confidence limits of the recombination fraction of the closest proximal marker, pHHH202, is 4%, and that for the closest distal marker, EW206, is 9%. These limits should decrease with the use of additional probes and the further evaluation of DNA from the six persons showing multiple recombinations within short genetic distances. Clinical application is technically feasible with currently available markers, although its appropriate use for prenatal and presymptomatic diagnosis requires further discussion and evaluation. |
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Authors:
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D E Goldgar; P Green; D M Parry; J J Mulvihill |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of human genetics Volume: 44 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1989 Jan |
Date Detail:
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Created Date: 1989-01-23 Completed Date: 1989-01-23 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 6-12 Citation Subset: IM |
Affiliation:
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Department of Medical Informatics, University of Utah, Salt Lake City. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Mapping* Chromosomes, Human, Pair 17* Genetic Markers Humans International Cooperation Linkage (Genetics)* Neurofibromatosis 1 / genetics* Recombination, Genetic |
| Grant Support | |
ID/Acronym/Agency:
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CA-28854/CA/NCI NIH HHS; CA-36362/CA/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
| Comments/Corrections | |
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