Rapid detection of cystic fibrosis transmembrane conductance regulator gene IVS8 5T variant by real-time PCR

Clinical Chemistry

Volumn 50, Issue 10, 2004, Pages 1837-1839

  Kámory, Eniko ^a   Csókay, Béla ^a   Holló, Zsolt ^a  

^a Genodia Molecular Diagnostics Ltd   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ARTICLE; CFTR GENE; CYSTIC FIBROSIS; GENE; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HUMAN; POLYMERASE CHAIN REACTION;

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOTYPE; HUMANS; MALE; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 4644350911     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.034074     Document Type: Article

References (16)

1. Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001;2:328-32.
2. Larriba S, Bassas L, Gimenez J, Ramos MD, Segura A, Nunes V, et al. Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Hum Mol Genet 1998;7:1739-44.
3. Dohle GR, Veeze HJ, Overbeek SE, van den Ouweland AMW, Halley DJJ, Weber RFA, et al. The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data. Hum Reprod 1999;14:371-4.
4. Friedman KJ, Kole J, Cohn JA, Knowles MR, Silverman LM, Kole R. Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J Biol Chem 1999;274:36193-9.
5. Huber KL, Mirkovic B, Nersesian R, Myers A, Saiki R, Bauer K. Survey of CF mutations in the clinical laboratory. BMC Clin Pathol 2002;2:4.
6. Lissens W, Mahmoud KZ, El-Gindi E, Abdel-Sattar A, Seneca S, van Steirteghem A, et al. Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of vas deferens. Mol Hum Reprod 1999;5:10-3.
7. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-80.
8. Mak V, Jarvi KA, Zielinski J, Durie P, Tsui LC. Higher proportion of intact exon 9 CFTR mRNA nasal epithelium compared with vas deferens. Hum Mol Genet 1997;6:2099-107.
9. Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, et al. Frequency of cystic fibrosis transmembrane Conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis. Chest 2001;119:762-7.
10. Costes B, Fanen P, Goossens M, Ghanem N. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 1993;2:185-91.
11. Meschede D, Dworniczak B, Behre HM, Kliesch S, Claustres M, Nieschlag E, et al. CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles. Am J Hum Genet 1997;61:1200-2.
12. Gelfi C, Perego M, Righetti PG, Cainarca S, Firpo S, Ferrari M, et al. Rapid capillary zone electrophoresis in isoelectric histidine buffer: high resolution of the poly-T tract allelic variants in intron 8 of the CFTR gene. Clin Chem 1998;44:906-13.
13. Wittwer CT, Ririe KM, Andrew DA, David RA, Gundry RA, Balis UJ. The LightCycler: a microvolume multisample fluorimeter with rapid temperature control. Biotechniques 1997;22:176-81.
14. Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, et al. Lung disease associated with the IVS8 5T allele of the CFTR gene. Am J Respir Crit Care Med 2000;162:1919-24.
15. Niksic M, Romano M, Buratti E, Pagani F, Baralle FE. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 1999;8:2339-49.
16. Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004;74:176-9.