First molecular screening of deafness in the Altai Republic population
<p>Abstract</p> <p>Background</p> <p>We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion center for world-wide hum...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2005-03-01T00:00:00Z.
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| Summary: | <p>Abstract</p> <p>Background</p> <p>We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion center for world-wide human expansions in the past.</p> <p>Methods</p> <p>A total of 76 patients of Altaian, Russian or mixed ethnicity and 130 Altaian controls were analyzed by PCR-DHPLC and sequencing in the <it>GJB2 </it>gene. The <it>GJB6 </it>deletion and the common non-syndromic deafness-causing mitochondrial mutations were also tested when appropriate.</p> <p>Results</p> <p>8.3% of the Altaian chromosomes were carrying <it>GJB2 </it>mutations versus 46.9% of the Russian chromosomes. The 235delC mutation was predominant among Altaians, whereas the 35delG mutation was most prevalent among Russian patients.</p> <p>Conclusion</p> <p>We found an Asian-specific <it>GJB2 </it>diversity among Altaians, and different <it>GJB2 </it>contribution for deafness in the Altaian and Russian patients. The high carrier frequency of 235delC in Altaians (4.6%) is probably defined by gene drift/founder effect in a particular group. The question whether the Altai region could be one of founder sources for the 235delC mutation widespread in Asia is open.</p> |
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| Item Description: | 10.1186/1471-2350-6-12 1471-2350 |