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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parent
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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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| 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 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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| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0008; CYSTIC FIBROSIS |
| Identified Mutation |
IVS10AS, G>A, -1 (1717-1G>A); Kerem et al. [Proc. Natl. Acad. Sci. USA 87: 8447-8451 (1990)] identified a splice mutation, a G-to-A change of nucleotide -1 in the acceptor site of intron 10. In a French patient with cystic fibrosis, Guillermit et al. [Hum. Genet. 85: 450-453 (1990)] detected the same mutation: a G-to-A change in the last nucleotide at the 3-prime end of intron 10 nucleotide 1717 minus one. The mutation destroyed a splice site. |
| Remarks |
Clinically unaffected parent of an affected child; heterozygous for 1717-1G>A [IVS10AS,G>A,-1] mutation; proband not in repository; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T |
| 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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| 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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