Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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
dbGaP |
| 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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Genotype analysis of the DNA from this cystic fibrosis patient showed homozygosity for the G542X mutation (Gly to Stop at amino acid 542). |
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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 |
602421.0009; CYSTIC FIBROSIS |
| Identified Mutation |
GLY542TER; A G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 (G542X). |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0009; CYSTIC FIBROSIS |
| Identified Mutation |
GLY542TER; A G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 (G542X). |
| Remarks |
Short stature; growth hormone deficiency; uniparental disomy for chromosome 7; pancreatic insufficiency since childhood; at age 19.5, has moderate pulmonary disease with localized bronchiectasis and allergic bronchopulmonary aspergillosis; homozygous for exon 11 Gly542TER (G542X) nonsense mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| Valley HC, Bukis KM, Bell A, Cheng Y, Wong E, Jordan NJ, Allaire NE, Sivachenko A, Liang F, Bihler H, Thomas PJ, Mahiou J, Mense M, Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells Journal of Cystic Fibrosis44:228-238 2018 |
| PubMed ID: 30563749 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Northrop LE, Treff NR, Levy B, Scott RT, SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts Molecular human reproduction16:590-600 2010 |
| PubMed ID: 20479065 |
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| Chou LS, Lyon E, Wittwer CT, A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol124(3):330-8 2005 |
| PubMed ID: 16191501 |
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| Zhou L, Wang L, Palais R, Pryor R, Wittwer CT, High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem51(10):1770-7 2005 |
| PubMed ID: 16189378 |
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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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| Huusko P, Ponciano-Jackson D, Wolf M, Kiefer JA, Azorsa DO, Tuzmen S, Weaver D, Robbins C, Moses T, Allinen M, Hautaniemi S, Chen Y, Elkahloun A, Basik M, Bova GS, Bubendorf L, Lugli A, Sauter G, Schleutker J, Ozcelik H, Elowe S, Pawson T, Trent JM, Carpten JD, Kallioniemi OP, Mousses S, Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer. Nat Genet36(9):979-83 2004 |
| PubMed ID: 15300251 |
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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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| Yanagihara K, Mizuuchi K, Mismatch-targeted transposition of Mu: a new strategy to map genetic polymorphism. Proc Natl Acad Sci U S A99(17):11317-21 2002 |
| PubMed ID: 12177413 |
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| Jenison R, La H, Haeberli A, Ostroff R, Polisky B, Silicon-based biosensors for rapid detection of protein or nucleic acid targets. Clin Chem47(10):1894-900 2001 |
| PubMed ID: 11568116 |
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| Zhong XB, Lizardi PM, Huang XH, Bray-Ward PL, Ward DC, Visualization of oligonucleotide probes and point mutations in interphase nuclei and DNA fibers using rolling circle DNA amplification. Proc Natl Acad Sci U S A98(7):3940-5 2001 |
| PubMed ID: 11274414 |
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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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| Kosaki K, Kosaki R, Craigen WJ, Matsuo N, Isoform-specific imprinting of the human PEG1/MEST gene. Am J Hum Genet66(1):309-12 2000 |
| PubMed ID: 10631159 |
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| Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL, Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet42:217-26 1988 |
| PubMed ID: 2893543 |
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