PGM1 and TF subtypes and C3 polymorphisms in Continental Italy and Sardinia. Data on the world distribution of these genetic markers
01 Mar 1987-International Journal of Anthropology (Kluwer Academic Publishers)-Vol. 2, Iss: 1, pp 47-60
TL;DR: A significant difference in the gene frequencies of PGM1 and TF systems between two Italian samples has been observed and data on the world distribution of P GM1, TF and C3 polymorphisms have been presented.
Abstract: PGM1, TF and C3 polymorphisms have been examined in two Italian samples, collected in continental Italy and in Sardinia (Cagliari). The PGM1 and TF subtypes were determined by isoelectric focusing while the C3 was studied by conventional methods. A significant difference in the gene frequencies of PGM1 and TF systems between our two samples has been observed. In addition, data on the world distribution of PGM1, TF and C3 polymorphisms have been presented.
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TL;DR: The results of this investigation confirm the results of previous investigations on genetic red cell enzyme markers, i.e. a relatively high genetic heterogeneity of Corsicans compared with other Mediterranean populations.
Abstract: By this investigation, the AA. want to contribute to the knowledge on the genetic characteristics of the Corsican population. The distribution of seven genetic serum protein markers (PI, TF, GC, ORM, HP, C3, PLG) was analized in a sample of 291 individuals coming from the central and northern areas of Corsica, i.e. from Corte and Bastia. The two samples do not show significant differences in the distribution of the genetic markers under study. The comparisons with other Mediterranean populations confirm the results of previous investigations on genetic red cell enzyme markers (Vona et al. 1995), i.e. relatively high genetic heterogeneity of Corsicans compared with other Mediterranean populations
17 citations
TL;DR: The isolation of Carloforte, highlighted by language diversity, endogamy, and consanguinity levels and marriage area, supports the idea of genetic diversity linked to cultural peculiarity.
Abstract: An interesting aspect of the island of Sardinia (Italy) is the wide range of genetic variability within the island itself. The variability is widened by the presence of some populations of different ethnic origin who speak a language other than Sardinian. This work deals with the study of the genetic structure of the Carloforte population which inhabits the tiny island of S. Pietro 4 km off the southwest coast of Sardinia. S. Pietro was first populated in 1738 by emigrants coming from the island of Tabarka (Tunisia) who spoke an archaic form of the Ligurian dialect. Data on genetic polymorphisms in the Carloforte population are presented and discussed in relation to some Sardinian and Italian populations. Data on demographic and matrimonial structure are also presented. The genetic analyses show the Carloforte population as being clearly separated from both Sardinians and continental Italians. The isolation of Carloforte, highlighted by language diversity, endogamy, and consanguinity levels and marriage area, supports the idea of genetic diversity linked to cultural peculiarity.
17 citations
TL;DR: New data is reported on of the frequency of common and rare variants in the Italian population for ADA, AK-1, 6-PGD, EsA, EsB, EsD, PGM-2, SOD-A, AcP, GPT, and PGI and the occurrence of several uncommon enzyme variants is reported.
Abstract: In the present paper we report on new data of the frequency of common and rare variants in the Italian population for ADA, AK-1, 6-PGD, EsA, EsB, EsD, PGM-1, PGM-2, SOD-A, AcP, GPT, and PGI. Moreover we present a comprehensive review of the available data on the electrophoretic variants of red cell enzymes in Italians. We find a considerable degree of genetic heterogeneity between the various populations living in the Peninsula and between the population of the Peninsula and of Sardinia. We also find that the estimates of the average heterozygosity are considerably smaller for the population of Sardinia as compared to Peninsula and Sicily. Finally, we report on the occurrence of several uncommon enzyme variants, which overall frequency is very similar to previously reported estimates for North European populations (Harris et al. 1974).
12 citations
TL;DR: No significant difference in the distribution of allele frequencies for either system was found between the two populations studied, and good results were also obtained by using whole blood instead of plasma.
Abstract: The distribution of the two alleles of FXIIIA and the three alleles of FXIIIB were studied in populations from mainland Italy and from Sardinia. The frequencies of the FXIIIA*2 allele were 0.266 and 0.265. The frequencies of FXIIIB*1 were 0.787 and 0.765; of B*2, 0.070 and 0.094; of B*3, 0.143 and 0.141. A new cathodal FXIIIA allele (A*7) was described in the Rome sample. No significant difference in the distribution of allele frequencies for either system was found between the two populations studied. For typing both markers, good results were also obtained by using whole blood instead of plasma.
9 citations
TL;DR: Plasma protein genetic polymorphisms (HP; TF and GC subtypes) were studied in two different areas (Friuli Venezia Giulia and Istria) and compared with those reported by literature on other Italian and ex-Yugoslav population samples.
Abstract: Plasma protein genetic polymorphisms (HP; TF and GC subtypes) were studied in two different areas (Friuli Venezia Giulia and Istria). The results are discussed and compared with those reported by literature on other Italian and ex-Yugoslav population samples.
1 citations
References
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01 Jul 1972
1,641 citations
572 citations
TL;DR: Polymorphism of human C'3 has been defined by prolonged agarose electrophoresis of fresh serum and at least four, and probably five, alleles have been identified by the electrophoretic mobilities of gene products.
Abstract: Polymorphism of human C′3 has been defined by prolonged agarose electrophoresis of fresh serum. At least four, and probably five, alleles have been identified by the electrophoretic mobilities of gene products. Inheritance of three alleles, F1 F, and S, is consistent with the autosomal condominant type. The inheritance of S1 is probably codominant and that of F0·8 is not known. Of the 15 phenotypes predicted by these alleles, eight have been observed.
The allotypes appear to differ in net surface charge at pH 8.6, but show no obvious differences in complement activity, in molecular size, or in binding of Ca++. The concentrations of the two gene products in serum from all known heterozygotes are approximately equal.
The S gene is most common in the three major races of man. The F gene is relatively common in Caucasians, less common in American Negroes, and relatively uncommon in Orientals.
255 citations
TL;DR: The influence of some electrophoretic variables on the results has been investigated and a standard technique developed and the method is quick, simple and gives good separation of C 3 proteins.
Abstract: . A new method of C 3 type determination on high voltage agarose gel electrophoresis is described. The influence of some electrophoretic variables on the results has been investigated and a standard technique developed. The method is quick, simple and gives good separation of C 3 proteins. The three common C 3 phenotypes and the four variant types so far studied are easily demonstrated.
Preliminary allele frequencies in a Norwegian population sample is presented. The values found, C 3S = 0.80 and C 3F = 0.19, are in good accordance with the allele frequencies in two population groups of North American Caucasians.
187 citations