Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8
dc.contributor.author | Romeo, Giovanni | en_US |
dc.contributor.author | Dean, Michael | en_US |
dc.contributor.author | Lynch, Jennifer | en_US |
dc.contributor.author | Amos, Jean A. | en_US |
dc.contributor.author | Ferrari, Maurizio | en_US |
dc.contributor.author | Halley, Dicky | en_US |
dc.contributor.author | Russo, Silvia | en_US |
dc.contributor.author | Finn, Paula B. | en_US |
dc.contributor.author | Iannuzzi, Michael C. | en_US |
dc.contributor.author | Collins, Francis S. | en_US |
dc.contributor.author | Devoto, Marcella | en_US |
dc.contributor.author | Oostra, Ben | en_US |
dc.contributor.author | Weir, Bruce S. | en_US |
dc.contributor.author | Ward, Ken | en_US |
dc.date.accessioned | 2006-09-11T19:12:27Z | |
dc.date.available | 2006-09-11T19:12:27Z | |
dc.date.issued | 1990-08 | en_US |
dc.identifier.citation | Dean, Michael; Amos, Jean A.; Lynch, Jennifer; Romeo, Giovanni; Devoto, Marcella; Ward, Ken; Halley, Dicky; Oostra, Ben; Ferrari, Maurizio; Russo, Silvia; Weir, Bruce S.; Finn, Paula B.; Collins, Francis S.; Iannuzzi, Michael C.; (1990). "Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8." Human Genetics 85(3): 275-278. <http://hdl.handle.net/2027.42/47627> | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47627 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=1975555&dopt=citation | en_US |
dc.description.abstract | Three polymorphic DNA markers surrounding the D7S8 locus were tested for their usefulness in the diagnosis of cystic fibrosis (CF) by linkage analysis. The markers correspond to the loci D7S424 and D7S426. These polymorphisms were studied by centers in the U.S., the United Kingdom, the Netherlands, and Italy, using samples from populations throughout Europe and North America. The additional information provided by these probes increased the heterogeneity of the region from 50% to 58% and was essential for a completely informative diagnosis in one family. A very high degree of linkage disequilibrium was found between these markers, which span a distance of approximately 250kb. In addition, linkage disequilibrium with CF was noted. Significant heterogeneity of linkage disequilibrium was found among the populations, both for the marker-marker pairs and between the markers and CF. | en_US |
dc.format.extent | 393463 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Human Genetics | en_US |
dc.title | Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8 | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | University of Michigan, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | University of Michigan, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Istituto Giannina Gaslini, I-16148, Genoa, Italy | en_US |
dc.contributor.affiliationother | Istituto Giannina Gaslini, I-16148, Genoa, Italy | en_US |
dc.contributor.affiliationother | John Radcliffe Hospital, OX3 9DU, Oxford, UK | en_US |
dc.contributor.affiliationother | Program Resources Inc., Frederick Cancer Research and Development Center, 21701, Frederick, MD, USA | en_US |
dc.contributor.affiliationother | Boston University School of Medicine, 02148, Boston, MA, USA | en_US |
dc.contributor.affiliationother | Istituto Scientificio H. S. Raffaele, I-20132, Milan, Italy | en_US |
dc.contributor.affiliationother | Erasmus University, NL-300, DR Rotterdam, The Netherlands | en_US |
dc.contributor.affiliationother | Boston University School of Medicine, 02148, Boston, MA, USA | en_US |
dc.contributor.affiliationother | Istituto Scientificio H. S. Raffaele, I-20132, Milan, Italy | en_US |
dc.contributor.affiliationother | North Carolina State University, 27695, Raleigh, NC, USA | en_US |
dc.contributor.affiliationother | Erasmus University, NL-300, DR Rotterdam, The Netherlands | en_US |
dc.contributor.affiliationother | University of Utah, 84132, Salt Lake City, UT, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 1975555 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47627/1/439_2004_Article_BF00206745.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00206745 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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