Abstract
The unlikely high frequency of G6PD deficiency which we found in a mountain village (San Giovanni in Fiore: province of Cosenza — Calabria, Southern Italy), with respect to the mean frequency of the other mountain villages in the same province, led us to carry out some investigations on the population of this village to understand this difference. The historical analysis, together with the social-demographic, endogamic and isonymyc study revealed the isolation of this village; while, the analysis of the allele frequencies of AK, ADA, 6PGD, PGM1, ABO and Rh markers revealed no significant differences if compared to the rest of the province. But the AK*5 variant which we found in ten unrelated subjects with a frequency of 0.0104, allows us to hypothesise together with the high G6PD frequency a random genetic drift effect on this village.
Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
