title: Distribution of ORM1, C6, C7 and APO C-II allele frequencies in populations from mainland Italy and Sardinia.
abstract: The genetic variation of the human plasma proteins ORM1, C6, C7 and APO C-II was investigated by isoelectric focusing followed by immunoblotting in populations from mainland Italy and Sardinia. The frequencies of ORM1*1 were 0.621 and 0.564, while those of C6*A were 0.657 and 0.706 on mainland Italy and in Sardinia, respectively. In the Roman sample, 8 heterozygotes with C6 variant alleles were encountered, while none were observed in Sardinians. For C7 and APO C-II a number of heterozygotes with the rare alleles C7*2 and APO C-II*2 were found, but their frequency did not reach polymorphic levels in either population. The two populations showed a significant difference in the gene frequencies distribution for ORM1.
authors.affiliation: CNR Center of Evolutionary Genetics, University La Sapienza, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Scacchi
authors.forename: R M
authors.initials: RM
authors.lastname: Corbo
authors.forename: G
authors.initials: G
authors.lastname: Cossu
authors.forename: L
authors.initials: L
authors.lastname: Mureddu
authors.forename: G
authors.initials: G
authors.lastname: Mulas
authors.forename: R
authors.initials: R
authors.lastname: Pascone
mesh_terms: D000483:Alleles; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000235:genetics*; D015153:Blotting, Western; D003183:Complement C6 / Q000235:genetics*; D003184:Complement C7 / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007558:Italy; D009961:Orosomucoid / Q000235:genetics*
chemical_list: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D003183:Complement C6; D003184:Complement C7; D009961:Orosomucoid