NOVEL MUTATIONS AND HAPLOTYPE ANALYSIS OF GENOMIC POLYMORPHISMS OF GJB2 AND GJB3 GENES ASSOCIATED WITH PROFOUND AND MODERATELY SEVERE HEARING LOSS IN PATIENTS FROM BASHKORTOSTAN
Dzhemileva LU*, Khidiyatova IM, Khabibullin RM, Khusnutdinova EK
*Corresponding Author: Dr. Lilya U. Dzhemileva, Institute of Biochemistry and Genetics, Russian Academy of Sciences, Prospect Octyabrya 69, 450054, Ufa, Russia; Tel: +07-3472-355255; Fax: +07-3472-356100; E-mail: Dzhemilev@anrb.ru
page: 41

REFERENCES

1. Morton NE. Genetic epidemiology of hearing im­pairment. Ann NY Acad Sci 1991; 630: 16-31.

2. Robertson ND, Norton CC. Beginning of a molecu­lar era in hearing and deafness. Clin Genet 1999; 55: 149-159.

3. Cohn ES, Kelley PM. Clinical phenotype and mu­tations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet 1999; 89: 130-136.

4. Kelley PM, Harris DJ, Comer BC. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998; 62: 792-799.

5. Guilford P, Ben Arab S, Blanchard S. A non-syn­dromic form of neurosensory recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994; 6: 24-28.

6. Brown KA, Ianiua AN, Karbani G. Linkage studies of non-syndromic recessive deafness (NRSD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 1996; 5: 169-173.

7. Gasparini P, Estivill X, Volpini V. Linkage of DFNB1 to non-syndromic neurosensory autosomal reces­sive deafness in Mediterranean families. Eur J Hum Genet 1997; 5: 83-88.

8. Zelante L, Gasparini P, Estivill X. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605-1609.

9. Bruzzone R, Write TW, Paul DL. Connections with connexins: the molecular basis of direct intercellular sig­naling. Eur J Biochem 1996; 238: 1-27.

10. Zefebvre PP, Van De Water TR. Connexins, hear­ing and deafness: clinical aspects of mutation in the con­nexin 26 gene. Brain Res 2000; 32: 159-162.

11. Carrasquillo MM, Zloyogora J, Barges S. Two different connexin 26 mutations in an inbred kindred seg­regating non-syndromic recessive deafness: implications for genetics studies in isolated populations. Hum Mol Genet 1997; 6: 2163-2172.

12. Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D, Petit C. Connexin 26 gene linked to a dominant deafness. Nature 1998, 393: 319-320.

13. Kudo T, Ikeda K, Kure S. Novel mutation in the connexin 26 gene (GJB2) responsible for childhood deaf­ness in the Japanese population. Am J Med Genet 2000; 90: 141-145.

14. Nance WE; Liu XZ, Pandya A. Relation between choice of partner and high frequency of connexin-26 deaf­ness. Lancet 2000; 356: 500-501.

15. Tekin M, Akar N, Cin S: Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Cau­casians. Hum Genet 2001; 108: 385-389.

16. Lench N, Stainer P, Williamson R. Simple non-invasive method to obtain DNA for gene analysis. The Lancet 1988; i: 1356-1358.

17. Dib C, Faure S, Fizames C. A comprehensive genetic map of the human genetic map of the human ge­nome based on 5.264 microsatellites. Nature 1996; 380: 152-154.

18. Krawchak M, Konecki D, Schmidtke I. Allelic association of the cystic fibrosis locus and two DNA mark­ers, Xv-2c and KM-19 in 55 German families. Hum Genet 1998; 80: 78-80.

19. Hawley ME, Kidd KK. HAPLO: a program using the EM algorithm to estimate the frequencies of multi-site haplotypes. J Hered 1995; 86: 409-411.

20. Kikuchi T, Kimura RS, Paul DL, Adams JC. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol 1995; 191: 101-118.

21. Lautermann J, Frank HG, Jahnke K, Traub O, Winterhager E. Developmental expression patterns of connexin 26 and –30 in the rat cochlea. Dev Genet 1999; 25: 306-311.




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