Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
dc.contributor.author | Strong, Theresa V. | en_US |
dc.contributor.author | Smit, Lisa S. | en_US |
dc.contributor.author | Nasr, Samya Z. | en_US |
dc.contributor.author | Wood, Deborah L. | en_US |
dc.contributor.author | Cole, Jeffrey L. | en_US |
dc.contributor.author | Iannuzzi, Michael C. | en_US |
dc.contributor.author | Stern, Robert C. | en_US |
dc.contributor.author | Collins, Francis S. | en_US |
dc.date.accessioned | 2006-04-28T17:05:23Z | |
dc.date.available | 2006-04-28T17:05:23Z | |
dc.date.issued | 1992 | en_US |
dc.identifier.citation | Strong, Theresa V.; Smit, Lisa S.; Nasr, Samya; Wood, Deborah L.; Cole, Jeffrey L.; Iannuzzi, Michael C.; Stern, Robert C.; Collins, Francis S. (1992)."Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene." Human Mutation 1(5): 380-387. <http://hdl.handle.net/2027.42/38580> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38580 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=1284540&dopt=citation | en_US |
dc.description.abstract | Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of DNA from a pancreatic insufficient patient by chemical mismatch cleavage and subsequent DNA sequencing led to the identification of a potential splice mutation in the CFTR gene. A transition of the invariant guanosine to adenosine (1898+1G > A) was found at the splice donor site of intron 12. To determine the effect of this mutation on the patient's CFTR transcripts, RNA from the nasal epithelium was reverse transcribed and amplified by the polymerase chain reaction (RT-PCR). Direct sequencing of the PCR products revealed that the transcript from the chromosome with the 1898+1G>A mutation had skipped exon 12 entirely, resulting in a joining of exons 11 and 13. Deletion of exon 12 results in the removal of a highly conserved region which encodes the Walker B consensus sequence of the first nucleotide-binding fold of CFTR. © 1992 Wiley-Liss, Inc. | en_US |
dc.format.extent | 677678 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 | Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene | 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, Michigan 48109–0650 ; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109–0650 | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109–0650 | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109–0650 | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109–0650 | en_US |
dc.contributor.affiliationum | The Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan 48109–0650 | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109–0650 ; Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109–0650 ; The Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan 48109–0650 | en_US |
dc.contributor.affiliationother | The Henry Ford Hospital, Detroit, Michigan | en_US |
dc.contributor.affiliationother | Rainbow Babies and Childrens Hospital, Cleveland, Ohio | en_US |
dc.identifier.pmid | 1284540 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38580/1/1380010506_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/humu.1380010506 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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