RESUMO
The distribution of PLG phenotypes in the population of Tuscany (Central Italy) has been investigated by means of isoelectric focusing followed by immunofixation of desialyzed sera. In a random sample of 383 unrelated healthy blood donors registered at the Hospital of Pisa, three common phenotypes, PLG A, A-B, and B, and two rare variants were found. The allele frequencies calculated in our study were: PLG*A = 0.6749, PLG*B = 0.3225, and PLG*rare = 0.0026. The theoretical exclusion rate in cases of disputed paternity is 17.42%.
Assuntos
Genética Populacional , Plasminogênio/genética , Polimorfismo Genético/genética , Frequência do Gene , Humanos , Itália , FenótipoRESUMO
A wide data collection on blood group gene frequencies in Italian regions and provinces is presented. This report is the result of a joint collaboration of human geneticists and forensic haematologists started in 1979 and updates a previous work by the same group. The following genetic polymorphisms have been examined: red-cell antigens (ABO, FY, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus), red-cell enzymes (ACP1, ADA, AK1, ESD, GLO1, GPT, PGD, PGM1), plasma proteins (BF, C3, GC, HP, IGK, PI, TF). Data have been classified according to genetic systems, Italian regions and provinces. Gene frequencies were estimated by the maximum likelihood method. The goodness of fit to Hardy-Weinberg proportions has been evaluated by the likelihood ratio statistics. Genetic heterogeneity of provinces and regions is reported.
Assuntos
Antígenos de Grupos Sanguíneos/genética , Polimorfismo Genético , Proteínas Sanguíneas/imunologia , Eritrócitos/enzimologia , Eritrócitos/imunologia , Frequência do Gene , Humanos , Itália , Estatística como AssuntoRESUMO
Both the general morphology and the ultrastructure distinguish the giants (cannibals) of Oxytricha bifaria from the normal cells. Beyond the general change of the body shape (i.e. differential increase of the thickness of the body along its major axis), a quantitative variation of some of the ciliary organelles (in somatic ciliature the increase of the number of the serially repeating structures and of the frontal cirri; in oral ciliature the increase of the number of membranelles and of the number of cilia per membranelle; the increase of the ciliary rows of the external paroral membrane) has been evidenced together with a differential modification of certain cortical areas. It can be concluded that it is quite appropriate to speak of cell differentiation referring to the giants of O. bifaria.
RESUMO
The C3 and Bf polymorphisms were studied in 1,000 unrelated Italians. The gene frequencies were calculated and compared with other districts of Italy.
Assuntos
Complemento C3/genética , Fator B do Complemento/genética , Precursores Enzimáticos/genética , Frequência do Gene , Humanos , Itália , Polimorfismo GenéticoRESUMO
The distribution of the human red cell esterase D (EsD) "extended" polymorphism in a population sample from Tuscany (Italy) was studied using agarose gel isoelectric focusing. The estimated gene frequencies were: EsD*1 0.864, EsD*2 0.115, EsD*5 0.021. The EsD*5 allele frequency is very similar to those reported for other European populations. The "extension" of the EsD polymorphism may prove to be useful in paternity testing.
Assuntos
Carboxilesterase , Hidrolases de Éster Carboxílico/genética , Eritrócitos/enzimologia , Frequência do Gene , Humanos , Itália , FenótipoRESUMO
Polyacrylamide gel isoelectric focusing (PAGIF) with carrier ampholytes was used for the determination of Tf phenotypes in a sample of 965 unrelated healthy blood donors from Tuscany (Italy). Thirteen rare variants in a heterozygote state were found (four Tf D, seven Tf B, and two rare Tf C subtypes). Among them two apparently new variants, tentatively called Tf C15 and Tf B4, were identified. The rare Tf B0 mutant was also observed.
