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The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus represents the most common mutation in Caucasian patients with genetic sensorineural deafness. This new meta-analysis concerns published carrier frequencies of the 35delG mutation in 27 populations for 6,628 unrelated individuals in Europe and in the Middle East; the mean carrier frequency of the mutation is 1.9%. Compared on a regional basis, the most elevated carrier frequency value is of 1 individual carrier in 31 in southern Europe. It is probable that the 35delG mutation originated in ancient Greece and was subsequently propagated in other Mediterranean countries (especially in Italy) during recent historical times.

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The 374F mutation in the SLC45A2 gene, encoding the membrane-associated transporter protein (MATP) that plays an important role in melanin synthesis, has been suggested to be associated with skin color in Caucasians. In this study, the detailed distribution of the 374F allele has been investigated in 2063 unrelated subjects from 18 European and three North African populations. The highest allele frequency is observed in Denmark (0.980), and the lowest frequencies are observed in Tunisia (0.610) and in Morocco (0.691). A significant latitudinal cline in 374F allele frequencies was observed, ranging from the north of West Europe to North Africa (r = 0.869). The results confirm that the distribution of the 374F allele may reflect the ultraviolet radiation level and can be associated with skin color variation in these regions.

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