Correlation of phenotypic and genetic heterogeneity in cystic fibrosis: Variability in sweat electrolyte levels contributes to heterogeneity and is increased with the XV-2c/KM19 B haplotype
dc.contributor.author | Witt, Michal P. | en_US |
dc.contributor.author | Erickson, Robert P. | en_US |
dc.contributor.author | Ober, Carole | en_US |
dc.contributor.author | Howatt, William F. | en_US |
dc.contributor.author | Farber, Rosann A. | en_US |
dc.date.accessioned | 2006-04-28T16:48:26Z | |
dc.date.available | 2006-04-28T16:48:26Z | |
dc.date.issued | 1991-05-01 | en_US |
dc.identifier.citation | Witt, Michal; Erickson, Robert P.; Ober, Carole; Howatt, William F.; Farber, Rosann (1991)."Correlation of phenotypic and genetic heterogeneity in cystic fibrosis: Variability in sweat electrolyte levels contributes to heterogeneity and is increased with the XV-2c/KM19 B haplotype." American Journal of Medical Genetics 39(2): 137-143. <http://hdl.handle.net/2027.42/38254> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38254 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2063915&dopt=citation | en_US |
dc.description.abstract | We have reinvestigated a classification of clinical heterogeneity among cystic fibrosis (CF) patients that we previously reported and investigated the possible relationship of the identified CF subgroups to haplotypes around the CF gene and to HLA-DR haplotypes. Age-corrected values for sweat electrolytes, rate of progression of lung disease as assessed by Brasfield chest x-ray scores, and severity of pancreatic insufficiency as assessed by daily supplemented enzyme dosage were obtained for 55, 59, and 59 patients, respectively. XV-2c and KM19 RFLPs were determined by hybridization to TaqI and PstI digests of human genomic DNA, respectively, and analysis of mutations by PCR amplification followed by allele-specific oligo-deoxy-nucleotide hybridization was performed for 29 patients. HLA-DR restriction fragment length polymorphisms (RFLPs) were determined by hybridization of cDNA Β1 and genomic DQΑ probes to TaqI digests of human genomic DNA. The results show that the previous subdivision on the basis of age-corrected levels of sweat electrolytes, as well as measures of severity of lung disease and pancreatic disease, is valid. In addition, the C and D haplotypes are associated with lower age-corrected sweat sodium level. No significant relationship between CF haplotypes and the other two disease variables or between HLA-DR haplotypes and any of the clinical variables was found. | en_US |
dc.format.extent | 804725 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Correlation of phenotypic and genetic heterogeneity in cystic fibrosis: Variability in sweat electrolyte levels contributes to heterogeneity and is increased with the XV-2c/KM19 B haplotype | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor ; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor ; Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor ; Dept. of Pediatrics, University of Arizona Health Sciences Center, Tucson, AZ 85724 | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor | en_US |
dc.contributor.affiliationother | Molecular Genetics Laboratory, Department of Obstetrics and Gynecology, University of Chicago, Illinois | en_US |
dc.contributor.affiliationother | Molecular Genetics Laboratory, Department of Obstetrics and Gynecology, University of Chicago, Illinois | en_US |
dc.identifier.pmid | 2063915 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38254/1/1320390205_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.1320390205 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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