Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
G1349D; CYSTIC FIBROSIS |
| Identified Mutation |
GLY1349ASP; A G to A transition at nucleotide 4178 (G4178A) converts the gly-1349 codon (GGC) to asp (GAC), resulting in a missense mutation [GLY1349ASP (G1349D)] in exon 22. Logan et al. [J Clin Invest 94: 228-236 (1994)] reported that this mutation in the CFTR second nucleotide binding domain led to decreased nucleotide binding by CFTR nucleotide binding domains. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0032; CYSTIC FIBROSIS |
| Identified Mutation |
ASN1303LYS; Osborne et al. [Am. J. Hum. Genet. 48: 608-612 (1991)] reported a C-to-G change at nucleotide 4041 resulting in a change from asparagine to lysine at amino acid position 1303 (N1303K). |
| Remarks |
Positive sweat tests; typical clinical findings; CFTR genotype is GLY1349ASP (G1349D)/ASN1303LYS (N1303K); analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T |
| May JP, Brown LJ, van Delft I, Thelwell N, Harley K, Brown T, Synthesis and evaluation of a new non-fluorescent quencher in fluorogenic oligonucleotide probes for real-time PCR Organic & biomolecular chemistry3:2534-42 2005 |
| PubMed ID: 15999185 |
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| Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004 |
| PubMed ID: 15507674 |
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| Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem50(1):251-4 2004 |
| PubMed ID: 14709668 |
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| Solinas A, Brown LJ, McKeen C, Mellor JM, Nicol J, Thelwell N, Brown T, Duplex Scorpion primers in SNP analysis and FRET applications. Nucleic Acids Res29(20):E96 2001 |
| PubMed ID: 11600715 |
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| Dunbar SA, Jacobson JW, Application of the luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: A pilot study. Clin Chem46(9):1498-500 2000 |
| PubMed ID: 10973900 |
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| Gregg RG, Simantel A, Farrell PM, Koscik R, Kosorok MR, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler EH, Splaingard M, Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods. Pediatrics99(6):819-24 1997 |
| PubMed ID: 9164776 |
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