A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

Author:

Solovyev Aisen V.ORCID,Kushniarevich AlenaORCID,Bliznetz ElenaORCID,Bady-Khoo Marita,Lalayants Maria R.ORCID,Markova Tatiana G.ORCID,Minárik GabrielORCID,Kádasi L’udevítORCID,Metspalu EneORCID,Pshennikova Vera G.ORCID,Teryutin Fedor M.ORCID,Khusnutdinova Elza K.ORCID,Poliakov Alexander,Metspalu MaitORCID,Posukh Olga L.ORCID,Barashkov Nikolay A.ORCID,Fedorova Sardana A.ORCID

Funder

russian foundation for basic research

study of the genetic structure and burden of hereditary pathology of populations of the republic of sakha

ministry of science and higher education of the russian federation

european regional development fund

iut 24 research funding of the institutional estonian ministry of education and research

Russian Foundation for Basic Research

Russian State Budjet program

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference43 articles.

1. Abidi O, Boulouiz R, Nahili H, Imken L, Rouba H, Chafik A, Barakat A (2008) The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population. Biochem Biophys Res Commun 377(3):971–974. https://doi.org/10.1016/j.bbrc.2008.10.086

2. Alexander DH, Novembre J, Lange K (2009) Fast model-based estimation of ancestry in unrelated individuals. Genome Res 19(9):1655–1664. https://doi.org/10.1101/gr.094052.109

3. Balci B, Gerçeker FO, Aksoy S, Sennaroğlu G, Kalay E, Sennaroğlu L, Dinçer P (2005) Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey. Turk J Pediatr 47(3):213–221

4. Barashkov NA, Dzhemileva LU, Fedorova SA, Teryutin FM, Posukh OL, Fedotova EE, Lobov SL, Khusnutdinova EK (2011) 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. J Hum Genet 56(9):631–639. https://doi.org/10.1038/jhg.2011.72

5. Behar DM, Yunusbayev B, Metspalu M, Metspalu E, Rosset S, Parik J, Rootsi S, Chaubey G, Kutuev I, Yudkovsky G, Khusnutdinova EK, Balanovsky O, Semino O, Pereira L, Comas D, Gurwitz D, Bonne-Tamir B, Parfitt T, Hammer MF, Skorecki K, Villems R (2010) The genome-wide structure of the Jewish people. Nature 466(7303):238–242. https://doi.org/10.1038/nature09103

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