Identification of an 11T allele in the polypyrimidine tract of intron 8 of the CFTR gene

Genetics in Medicine

Volumn 8, Issue 2, 2006, Pages 125-128

  Kobler, Daniel ^a   Modi, Hemanshu ^a   Goldman, Barbara ^a  

^a Tm Bioscience Corporation   (Canada)

Author keywords

CFTR gene; Cystic fibrosis; Intron 8; Polypyrimidine tract

Indexed keywords

DNA; POLYPYRIMIDINE TRACT BINDING PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; POLYTHYMIDYLIC ACID;

ALLELE; ARTICLE; CFTR GENE; CYSTIC FIBROSIS; GENE; GENE IDENTIFICATION; HUMAN; INTRON; RARE DISEASE; SCREENING TEST; SENSITIVITY AND SPECIFICITY; STATISTICAL SIGNIFICANCE; ADULT; ANALYTICAL EQUIPMENT; CHILD; GENE FREQUENCY; GENETIC SCREENING; GENETICS; METHODOLOGY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ADULT; ALLELES; BASE SEQUENCE; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE FREQUENCY; GENETIC SCREENING; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLY T; POLYPYRIMIDINE TRACT-BINDING PROTEIN; REAGENT KITS, DIAGNOSTIC;

EID: 33645379920     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000200217.85820.47     Document Type: Article

References (18)

1. Moskowitz SM, Gibson RL, Sternen DL, Cheng E, et al. (Updated 24 August 2004): CFTR-Related Disorders. In GeneReviews at GeneTests: Medical Genetics Information Resource. http://www.genetests.org. Accessed 12 May 2005.
2. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998;132:589-595.
3. Hamosh A, Fitz-Simmons SC, Macek M Jr, Knowles MR, et al. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998;132:255-259.
4. Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: frequency and mutation distribution. Genet Test 1997;1:35-39.
5. Riordan JR, Rommens JM, Kerem B, Alon N, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-1073.
6. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-1065.
7. Cystic Fibrosis Mutation DataBase. http://www.genet.sickkids.on.ca/cftr/. Accessed 12 May 2005.
8. Grody WW, Cutting GR, Klinger KW, Richards CS, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-154.
9. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387-391.
10. Chillon M, Casals T, Mercier B, Bassas L, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-1480.
11. Kiesewetter S, Macek M, Davis C, Curristin SM, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993;5:274-277.
12. Disset A, Michot C, Guittard C, DeGeorges M, et al. Identification of a T3 allele in a CBAVD (congenital bilateral absence of vas deferens) patient: in vitro studies demonstrate tissue specificity of aberrant exon 9 splicing. Belfast: 26th European CF Conference. 2003:4-7.
13. Disset A, Michot C, Harris A, Buratti E, et al. A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Hum Mutat 2005;25:72-81.
14. Millson A, Pont-Kingdon G, Page S, Lyon E. Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes. Clin Chem 2005;51:1619-1623.
15. Viel M, Leroy C, DeGeorges M, Claustres M. Novel length variant of the polypyrimidine tract with the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays. Eur J Hum Genet 2005;13:136-138.
16. Lisle CM, Bortolin S, Kobler D, Fieldhouse D, et al. Cystic fibrosis mutation detection using a bead-based universal array. Clin Chem 2003;49:A15.
17. Bortolin S, Black M, Modi H, Boszko I, et al. Analytical validation of the Tag-It high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin Chem 2004;50:2028-2036.
18. Cuppens H, Lin W, Jaspers M, Costes B, et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the 5T polymorphism as a disease mutation. J Clin Invest 1998;101:487-496.