International Journal of Medical Genetics

Research Article

Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

Table 1

Geographic distribution of the polymorphism p.Val27Ile in the GJB2.
PopulationsChrNH 
(AFs)		ChrHI 
(AFs) 		References
Asians:   
 Koreans192 (41%)200 (40%)Kim et al., [18]
Park et al., [13]
 Japanese 192 (39%)Abe et al., [12]
 Chinese 4126 (25%)Dai et al., [14]
 Mongolians434 (30%)1068 (26%)Tekin et al., [15]
 Turkish 308 (2.3%)Tekin et al., [27]
Siberians:   
 Southern Altaians (Altai Republic)260 (19%)60 (28%)Posukh et al., [16]
 Russian ethnic group (Altai Republic) 0 (0%)Posukh et al., [16]
 Yakuts (Sakha [Yakutia])340 (10.5%)a88 (3.4%)Barashkov et al., [24]
Americans:   
 East Greenlanders 90 (3.3%)Homøe et al., [28]
 Mexican-Americans (South California USA)200 (24%)42 (19%) Shimmenti et al., [20]
 Hispanic (USA). 242 (11.5%)Pandya et al., [19]
 American Caucasians (USA). 1176 (0.34%)Pandya et al., [19]
 Mexican mestizos 250 (15%)This study
 Mexicans (unspecified ethnicity) 152 (24%)Arenas-Sordo et al., [22]
 Brazilians (Belém Pará, amazon region)800 (12%)154 (15.5%)Castro et al., [23]
 Brazilians (Sao Paulo) “white” (majority) 600 (1%)Batissoco et al., [29]
 Colombians 224 (8%)Tamayo et al., [21]
 Ecuadorian mestizos222 (27%)b Paz-y-Miño et al., [25]
 Chileans 162 (4.9%)Arancibia et al., [30]
 Argentineans 92 (1%)Dalamón et al., [31]
AFs = allele frequencies; ChrNH = chromosomes of normal hearing persons; Chr HI = chromosomes of patients with hearing impairment.
aRelatives of persons with GJB2 homozygous mutation IVS1+1G>A.
bChromosomes of normal hearing persons; chromosomes of patients with hearing impairment and chromosomes of relatives of persons with hearing impairment.