Prevalence of GJB2 gene mutation 35delG among healthy population of Northwest Region of Russia

S C Zhuravskiy; S A Ivanov; A E Taraskina; O V Grinchik; A A Kurus

doi:10.17816/MAJ9241-45

Medical academic journal ›› 2009, Vol. 9 ›› Issue (2) : 41 -45. DOI: 10.17816/MAJ9241-45

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Prevalence of GJB2 gene mutation 35delG among healthy population of Northwest Region of Russia

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Abstract

Mutation 35delG of GJB2 gene is a major genetic factor of hereditary recessive prelingual deafness in Caucasian population. This study investigated heterozygous carrier prevalence of the mutation among healthy native population of Northwest region of Russia. DN A analysis was carried out on blood material from inhabitants (n=1153) of Arkhangelsk, Pskov, Saint Petersburg and Kaliningrad region. The prevalence of heterozygous 35delG/GJB2 mutation in healthy individuals was found to be 5.0%, 4.7%, 5.5%, and 7.5%, respectively, which is considerably higher than the average prevalence in Europe. Possible causes of such high prevalence of the 35delG/GJB2 mutation are discussed.

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Hereditary recessive prelingual deafness / 35delG/GJB2 mutation / connexin 26 / ethnogeography / Northwest Russia

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S C Zhuravskiy, S A Ivanov, A E Taraskina, O V Grinchik, A A Kurus. Prevalence of GJB2 gene mutation 35delG among healthy population of Northwest Region of Russia. Medical academic journal, 2009, 9(2): 41-45 DOI:10.17816/MAJ9241-45

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