Document Detail


A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
MedLine Citation:
PMID:  1720926     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A cluster of highly polymorphic dinucleotide repeats has been detected in intron 17b of the CFTR gene, 200 bp downstream from the preceding exon. At least 24 alleles, with sizes ranging from 7 to 56 units of a TA repeat, have been identified in a panel of 92 unrelated carriers of cystic fibrosis (CF). The common ones are those with 7, 30, and 31 dinucleotide units, with frequencies of .22, .19, and .12, respectively, among the non-CF chromosomes. Mendelian, codominant segregation of the alleles has been demonstrated in family studies, as expected. A less polymorphic dinucleotide (CA repeat) cluster has also been detected in a region 167 bp downstream from the TA repeat. The length of the CA repeat cluster varies from 11 to 17 dinucleotide units, and it appears to have an inverse relationship to that of the TA repeats. These dinucleotide repeats should be useful in genetic linkage studies, in counseling for CF families with unknown mutations, and in tracing the origins of the various mutant CF alleles.
Authors:
J Zielenski; D Markiewicz; F Rininsland; J Rommens; L C Tsui
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  49     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1991 Dec 
Date Detail:
Created Date:  1992-01-10     Completed Date:  1992-01-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1256-62     Citation Subset:  IM    
Affiliation:
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/M77177;  M77178;  M77179;  M77180;  M77181;  S62061;  S62063;  S62066;  S62712;  S68560
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MeSH Terms
Descriptor/Qualifier:
Adenine Nucleotides
Base Sequence
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
Cytosine Nucleotides
Genes, Regulator*
Humans
Introns*
Linkage (Genetics)
Membrane Proteins / genetics*
Molecular Sequence Data
Mutation
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid*
Thymine Nucleotides
Grant Support
ID/Acronym/Agency:
DK34944/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/Adenine Nucleotides; 0/CFTR protein, human; 0/Cytosine Nucleotides; 0/Membrane Proteins; 0/Thymine Nucleotides; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator
Comments/Corrections

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