Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect-Reference-Cited by-同舟云学术

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

Published:2011-07-21 Issue:9 Volume:56 Page:631-639
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Barashkov Nikolay A,Dzhemileva Lilya U,Fedorova Sardana A,Teryutin Fedor M,Posukh Olga L,Fedotova Elvira E,Lobov Simeon L,Khusnutdinova Elza K

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201172.pdf

Reference50 articles.

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2. Van Camp, G. & Smith, R. J. H. Hereditary Hearing Loss Homepage, July–August 2010; http://hereditaryhearingloss.org .

3. Mignon, C., Fromaget, C., Mattei, M. G., Gros, D., Yamasaki, H. & Mesnil, M. Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-q12 and mouse chromosome 14D1-E1 by in situ hybridization. Cytogenet. Cell. Genet. 72, 185–186 (1996).

4. del Castillo, F. J., Rodríguez-Ballesteros, M., Álvarez, A., Hutchin, T., Leonardi, E., de Oliveira, C. A. et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J. Med. Genet. 42, 588–594 (2005).

5. Liu, X. Z., Yuan, Y., Yan, D., Ding, E. H., Ouyang, X. M., Fei, Y. et al. Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. Hum. Genet. 125, 53–62 (2009).

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