A simple and reliable method for the detection of the 30delG mutation of the CX26 gene

Molecular and Cellular Probes

Volumn 14, Issue 3, 2000, Pages 149-152

  Casademont, I ^a   Chevrier, D ^a   Denoyelle, F ^a   Petit, C ^a   Guesdon, J L ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

30delG mutation; Connexin 26 gene; Non syndromic recessive deafness; PCR; Sandwich hybridization

Indexed keywords

CONNEXIN 26; DNA; REAGENT;

ARTICLE; CLINICAL TRIAL; CONGENITAL DEAFNESS; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DEVICE; DIAGNOSTIC PROCEDURE; DNA HYBRIDIZATION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0033925239     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.2000.0297     Document Type: Article

References (15)

1. Denoyelle F., Weil D., Maw M. A., Wilcox S. A., Lench N. J., Allen-Powell D. R. et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Human Molecular Genetics. 6:1997;2173-2177.
2. Zelante L., Gasparini P., Estivill X., Melchionda S., D'Agruma L., Govea N. et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics. 6:1997;1605-1609.
3. Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D'Agruma L. et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 351:1998;394-398.
4. Kelley P. M., Harris D. J., Comer B. C., Askew J. W., Fowler T., Smith S. D. et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. American Journal of Human Genetics. 62:1998;792-799.
5. Anon. Worldwide survey of the delta F508 mutation - report from the cystic fibrosis genetic analysis consortium. American Journal of Human Genetics. 47:1990;354-359.
6. Carrasquillo M. M., Zlotogora J., Barges S., Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Human Molecular Genetics. 6:1997;2163-2172.
7. Scott D. A., Kraft M. L., Carmi R., Ramesh A., Elbedour K., Yairi Y. et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Human Mutation. 11:1998;387-394.
8. Morell R. J., Kim H. J., Hood L. J., Goforth L., Friderici K., Fisher R. et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. New England Journal of Medicine. 339:1998;1500-1505.
9. Murgia A., Orzan E., Polli R., Martella M., Vinanzi C., Leonardi E. et al. Cx26 deafness: mutation analysis and clinical variability. Journal of Medical Genetics. 36:1999;829-832.
10. Chevrier D., Rasmussen S. R., Guesdon J. L. PCR product quantification by non-radioactive hybridization procedures using an oligonucleotide covalently bound to microwells. Molecular and Cellular Probes. 7:1993;187-197.
11. Rasmussen S. R., Larsen M. R., Rasmussen S. E. Covalent immobilization of DNA onto polystyrene microwells: The molecules are only bound at the 5′ end. Analytical Biochemistry. 198:1991;138-142.
12. Lee S. W., Tomasetto C., Paul D., Keyomarsi K., Sager R. Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines. Journal of Cell Biology. 118:1992;1213-1221.
13. Stanley C. J., Johannsson A., Self H. Enzyme amplification can enhance both the speed and the sensitivity of immunoassays. Journal of Immunological Methods. 83:1985;89-95.
14. Chevrier D., Oprisan G., Maresca A., Matsiota-Bernard P., Guesdon J. L. Isolation of a specific DNA fragment and development of a PCR-based method for the detection of Mycobacterium genavense. FEMS Immunology and Medical MicroÍbiology. 23:1999;243-252.
15. Chevrier D., Popoff M. Y., Dion M. P., Hermant D., Guesdon J. L. Rapid detection of Salmonella subspecies I by PCR combined with non-radioactive hybridization using covalently immobilized oligonucleotide on a microplate. FEMS Immunology and Medical Microbiology. 10:1995;245-501.