Genetic and demographic characterization of a population with high incidence of fucosidosis.
A random sample of unrelated students living in Grotteria and Mammola, two villages of Southern Italy from where most of the Italian patients affected with fucosidosis originate, was analyzed for seven red cell enzyme polymorphisms and seven blood group polymorphisms. The observed gene frequencies are not significantly different from those typical of Southern Italy. Demographic data on the same sample were also collected and indicate isolation and high inbreeding in these villages.
D000293:Adolescent; D001789:Blood Group Antigens / Q000235:genetics; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics; D002648:Child; D003241:Consanguinity; D004912:Erythrocytes / Q000201:enzymology*; D005643:Fucose / Q000378:metabolism; D005787:Gene Frequency; D006801:Humans; D007558:Italy; D011157:Population Dynamics; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D001789:Blood Group Antigens; D005643:Fucose; D005644:alpha-L-Fucosidase