What genetic testing can offer

Genes, Hearing, and Deafness: From Molecular Biology to Clinical Practice

Volumn , Issue , 2007, Pages 213-217

  Gasparini, Paolo ^a   Read, Andrew P ^b  

^a UNIVERSITY OF TRIESTE   (Italy)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 72049083654     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (18)

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2. Schrijver I. Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J Mol Diagn 2004; 6: 275-284.
3. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 2003; 73: 1452-1458.
4. Pandya A, Arnos KS, Xia XJ, et al. Frequency and distribution of GJB2 (Connexin 26) and GJB6 (Connexin 30) mutations in a large North American repository of deaf probands. Genet Med 2003; 5: 295-303.
5. Snoeckx RL, Huygen PL, Feldmann D et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005; 77: 945-57.
6. http://www.genetests.org/
7. Mutation Detection: A Practical Approach. Cotton RGD, Edkins E, Forrest S, eds. New York: Oxford University Press, 1998.
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10. Hacia JG, Brody LC, Chee MS, Fodor SP, Collins FS. Detection of heterozygous mutations in BRCA1 using high-density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet 1996; 14: 441-447.
11. Shumaker JM, Metspalu A, Caskey CT. Mutation detection by solid phase primer extension. Hum Mutat 1996; 7: 346-354.
12. Head SR, Rogers YH, Parikh K, et al. Nested genetic bit analysis (N-GBA) for mutation detection in the p53 tumor suppressor gene. Nucleic Acids Res 1997; 25: 5065-5071.
13. Pastinen T, Kurg A, Metspalu A, Peltonen L, Syvanen AC. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res 1997; 7: 606-614.
14. Kurg A, Tonisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test 2000; 4: 1-7.
15. Tonisson N, Zernant J, Kurg A, et al. Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene. Proc Natl Acad Sci USA 2002; 99: 5503-5508.
16. Shumaker JM, Tollet JJ, Filbin KJ, Montague-Smith MP, Pirrung MC. APEX disease gene resequencing: mutations in exon 7 of the p53 tumor suppressor gene. Bioorg Med Chem 2001; 9: 2269-2278.
17. Shafer DN. Genetic hearing test moves ahead: goal is to identify sensorineural hearing loss earlier. ASHA 2005; 5: 27.
18. S&R: Strachan T, Read AP. Human Molecular Genetics. 3rd ed. Garland, 2004. The 2nd ed. (“S&R2" Bios Scientific Publishers, 2000) is freely available as full searchable text at http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db_Books. Because of this ready availability, in this chapter references are given to this edition.