PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France

Connexin 26 mutation 35delG: Prevalence of carriers in various regions in France

“…In previous studies, we reported percentages of 35delG heterozygosity in the Parisian region in France [6] and in Corsica [7]: for 512 subjects originating for Paris the percentage heterozygosity = 2.73; for 328 Corsican subjects the percentage heterozygosity = 3.35, similar to higher value obtained for Greece [8]. In the present study, we have tested the 35delG percentage heterozygosity in five populations representing the South and the South-East in the Mediterranean coast in France.…”

Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population

“…In most studies, a specific G deletion mutation, 35delG, was identified as the most common mutation in the GJB2 gene (Denoyelle et al, 1997;Zelante et al, 1997;Lucotte et al, 2001). However, other studies have concluded that the 35delG mutation is absent in Japanese (Abe et al, 2000), in Ghanaians (Hamelman et al, 2001), and that it occurs rarely in Koreans (Park et al, 2000).…”

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

“…6 The mutation c.35delG has been found to occur with high frequency in populations of Europe, Middle East and Northern America (predominantly among Caucasians). [7][8][9][10][11][12][13][14] The mutation c.235delC has been registered mainly in East Asian populations (Japanese, Korean and Chinese); and also has been found among Thais (Southeast Asia), Mongolians (Central Asia) and Altaians (South Siberia). [15][16][17][18][19][20][21] The mutation c.167delT is specific for Ashkenazi Jews and is sporadically found in some other populations.…”