Distribution of ORM1, C6, C7 and APO C-ll 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 het-erozygotes 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.

Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations

“…Nevertheless, a selective advantage a t one extreme of the environmental gradient of APOE*4-carrying genotypes is difficult to explain since they are associated with higher mean LDL-cholesterol concentrations. Sing & Davignon (1985) suggest that an advantage could depend on the tendency of APOE*4 carriers to have slightly higher HDL-cholesterol concentrations. Since HDL-cholesterol represents only a small fraction of total plasma cholesterol, a small increase may be quite meaningful.…”

“…Xu et al 1991 ;James et al 1993). Another mechanism (Sing & Davignon, 1985) could reside in some E4 properties. Its different distribution on lipoprotein particles and its higher catabolic rates (Gregg et al 1986) will result in a fast clearance of chylomicrons and VLDL remnants.…”

“…Studies on the genetic structure of Italy and the comparison with other European countries (Piazza et al 1988;Cavalli-Sforza et al 1994) have revealed that Central and Southern Italy, including Sicily, are similar to Greece and other Mediterranean countries, whereas Sardinia emerges as genetically different from all other Italian regions. Its peculiar genetic make-up could be due to various factors such as its longstanding isolation from the continent and the presence of selective agents like malaria (Piazza et al 1985; Modiano et al 1986;Scacchi et al 1992). Southern Italy, Sicily and Sardinia have never been studied before for APOE polymorphism.…”

Genetic heterogeneity among the Hindus and their relationships with the other “Caucasoid” populations: New data on Punjab‐Haryana and Rajasthan Indian States

“…Phosphoglycolate phos-(ESD), and phosphogluconate dehydroge-phatase (PGP) was studied by starch gel nase (PGD) and following Spielmann and electrophoresis following Parker and Hop- Typings of serum markers were carried out by standard procedures with minor modifications for F13A, F13B, ORM1, C6, C7, and APO C2 (Scacchi et al, , 1992 and following the method reported in Giblett (1969) for HP. The AEiO determinations on the Punjab blood specimens were performed with the standard methods.…”

Orosomucoid Polymorphism in Finns, Swedes and Swedish Saamis

“…The ORM1 locus has been assigned to chromosome 9q34.3-qter, and linkage to the ABO, AKJ and ALADH loci has been demonstrated [7,8], ORM typ ing employing isoelectric focusing and immunoblotting has revealed that the scrum ORM components are controlled by two dif ferent loci ORM1 and ORM2 [9], The ORM2 locus which has been found to be po lymorphic among Japanese is apparently monomorphic in other populations. Further studies have shown additional genetic varia tion including a gene duplication at the ORM1 locus and a silent allele at the ORM2 locus [10][11][12], Polymorphism at the ORM1 locus has been studied in a number of populations [13][14][15], Montiel et al [13] have summarized ORM1 al lele frequencies in different populations. The frequency of the ORMl *2 allele varied be tween 0.34 and 0.45 in most world populations including Europeans.…”