A novel 355-57delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients
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  • 作者:Mohammad Hamid (1)
    Morteza Karimipoor (1)
    Morteza Hashemzadeh Chaleshtori (2)
    Mohammad Taghi Akbari (3) (4)
  • 关键词:hearing loss ; connexin 26 (Cx26) ; gap junction beta ; 2 (GJB2) ; 35delG ; Iranian population ; human genetics
  • 刊名:Journal of Genetics
  • 出版年:2009
  • 出版时间:December 2009
  • 年:2009
  • 卷:88
  • 期:3
  • 页码:359-362
  • 全文大小:123KB
  • 参考文献:1. Abe S., Usami S., Shinkawa H., Kelley P. M. and Kimberling W. J. 2000 Prevalent connexin 26 gene ( / GJB2) mutations in Japanese. / J. Med. Genet. 37, 41-3. CrossRef
    2. Alvarez A., del Castillo I., Villamar M., Aguirre L. A., Gonzalez-Neira A., Lopez-Nevot A. / et al. 2005 High prevalence of the W24X mutation in the gene encoding connexin-26 ( / GJB2) in Spanish Romani (gypsies) with autosomal recessive nonsyndromic hearing loss. / Am. J. Med. Genet. Suppl. A. 137, 255-58. CrossRef
    3. Ballana E., Ventayol M., Rabionet R., Gasparini P. and Estivill X. 2001 Connexins and deafness homepage. URL: http//www.iro. es/deafness/.
    4. Dahl E., Manthey D., Chen Y., Schwarz H. J., Chang Y. S., Lalley P. A. / et al. 1996 Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin. / J. Biol. Chem. 271, 17903-7910. CrossRef
    5. Esmaeili M., Bonyadi M. and Nejadkazem M. 2007 Common mutation analysis of / GJB2 and / GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. / Int. J. Pediatr. Otorhinolaryngol. 71, 869-73. CrossRef
    6. Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D’Agruma L. / et al. 1998 Connexin-26 mutations in sporadic and inherited sensorineural deafness. / Lancet 351, 394-98. CrossRef
    7. Gunther B., Steiner A., Nekahm-Heis D., Albegger K., Zorowka P., Utermann G. / et al. 2003 The 342-kb deletion in / GJB6 is not present in patients with non-syndromic hearing loss from Austria. / Hum. Mutat. 22, 180. CrossRef
    8. Hashemzadeh Chaleshtori M., Montazer Zohour M., Hoghooghi Rad L., Pour-Jafari H., Farhud D. D., Dolati M. / et al. 2006 Autosomal recessive and sporadic non syndromic hearing loss and the incidence of Cx26 mutations in a province of Iran. / Iran. J. Pub. Health 35, 88-1.
    9. Kalay E., Caylan R., Kremer H., de Brouwer A. P. and Karaguzel A. 2005 GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. / Hear. Res. 203, 88-3. CrossRef
    10. Kelley P. M., Harris D. J., Comer B. C., Askew J. W., Fowler T., Smith S. D. / et al. 1998 Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. / Am. J. Hum. Genet. 62, 792-99. CrossRef
    11. Kelley P. M., Cohn E. and Kimberling W. J. 2000 Connexin 26: required for normal auditory function. / Brain Res. Rev. 32, 184-88. CrossRef
    12. Lerer I., Sagi M., Ben-Neriah Z., Wang T., Levi H. and Abeliovich D. 2001 A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. / Hum. Mutat. 18, 460. CrossRef
    13. Najmabadi H., Nishimura C., Kahrizi K., Riazalhosseini Y., Malekpour M., Daneshi A. / et al. 2005 GJB2 mutations: passage through Iran. / Am. J. Med. Genet. Suppl. A. 133, 132-37. CrossRef
    14. Posukh O., Pallares-Ruiz N., Tadinova V., Osipova L., Claustres M. and Roux A. F. 2005 First molecular screening of deafness in the Altai Republic population. / BMC Med. Genet. 6, 12. CrossRef
    15. Rabionet R., Zelante L., Lopez-Bigas N., D’Agruma L., Melchionda S., Restagno G. / et al. 2000 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. / Hum. Genet. 106, 40-4. CrossRef
    16. Rothrock C. R., Murgia A., Sartorato E. L., Leonardi E., Wei S., Lebeis S. L. / et al. 2003 Connexin 26 35delG does not represent a mutational hotspot. / Hum. Genet. 113, 18-3.
    17. Sadeghi A., Sanati M. H., Alasti F., Hashemzadeh Chaleshtori M. and Ataei M. 2005 Mutation analysis of connexin 26 gene and del( / GJB6-D13S1830) in patients with hereditary deafness from two provinces in Iran. / Iran. J. Biotechnol. 3, 255-58.
    18. Schrijver I. 2004 Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. / J. Mol. Diagn. 6, 275-84.
    19. Van Laer L., Coucke P., Mueller R. F., Caethoven G., Flothmann K., Prasad S. D. / et al. 2001 A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. / J. Med. Genet. 38, 515-18. CrossRef
    20. Verselis V. K., Ginter C. S. and Bargiello T. A. 1994 Opposite voltage gating polarities of two closely related connexins. / Nature 368, 348-51. CrossRef
  • 作者单位:Mohammad Hamid (1)
    Morteza Karimipoor (1)
    Morteza Hashemzadeh Chaleshtori (2)
    Mohammad Taghi Akbari (3) (4)

    1. Department of Molecular Medicine, Pasteur Institute of Iran, No. 69, Pasteur Ave, 13164, Tehran, Iran
    2. Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, 88179-55786, Iran
    3. Department of Medical Genetics, Faculty of Medical Science, Tarbiat Modares University, Tehran, 14115-111, Iran
    4. Tehran Medical Genetics Laboratory, No. 297, Taleghane Street, Tehran, 1598619617, Iran
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