M. Bargagna

Red cell esterase-D polymorphism in the population of Tuscany.

SummaryEsterase-D phenotypes were determined in a population sample of Tuscany, Italy. The observed frequencies of the three alleles are: EsD1=0.856, EsD2=0.143 and EsD3=0.001. Studies of the pedigree of the proposituss EsD 3-1 family and mother-child combinations confirm an autosomal co-dominant inheritance.

Isoelectric focusing of human red cell phosphoglucomutase (PGM1). Phenotype distribution in the population of Tuscany and two hereditary variants.

SummaryPhosphoglucomutase (PGM1) phenotypes were determined in a population sample of Tuscany, Italy, by isoelectric focusing. The frequencies observed for the four alleles are: PGM11+=0.6012, PGM11-=0.1059, PGM12+=0.2495, PGM12-=0.0434. Two variants were detected and it was possible to study the parentage of both of them. The pedigree of the propositus of the first variant shows that the variant occurs in combination with the common alleles PGM1 1+ and PGM1 2+ and that it has an autosomal dominant inheritance. The second variant has been shown to be a product of the PGM2 locus, although its PAGIF pattern is included between 2- and 1+ isoenzymes.

Distribution of C3 and Bf Allotypes in Tuscany (Italy)

The C3 and Bf polymorphisms were studied in 1,000 unrelated Italians. The gene frequencies were calculated and compared with other districts of Italy.

Polymorphism of plasminogen in Tuscany (Italy)

SummaryThe 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%ZusammenfassungDie Verteilung der Plasminogen-Phänotypen in der Bevölkerung der Toskana wird untersucht. Die Bestimmung erfolgt an Neuraminidasebehandelten Seren nach isoelektrischer Fokussierung im Agarose-Gel und anschließender Immunofixation. In einer zufälligen Bevölkerungsstichprobe von 383 unverwandten gesunden Blutspendern des Krankenhauses Pisa wurden die drei neueren-Phdnotypen PLG A, A-B and B gefunden sowie zwei seltene Varianten. Die berechneten Allelfrequenzen unserer Studie waren: PLG*A = 0,6749, PLG*B = 0,3225 and PLG* seltene Var. = 0,0026. Die theoretische Ausschließungschance im Vaterschaftsverfahren beträgt 17,42%.

EsD*5 gene frequency in Tuscany (Italy)

SummaryThe 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.ZusammenfassungDie Verteilung des „ausgedehnten“ Polymorphismus der Esterase-D (EsD) in menschlichen roten Blutkörperchen in der Bevölkerung der Toskana (Italien) wurde anhand der isoelektrischen Fokussierung in Agarosegel studiert. Die von uns gefundene Frequenz der Gene war: EsD*1 0,864, EsD*2 0,115, EsD*5 0,021. Die Allelenfrequenz der EsD*5 kommt denen in anderen europäischen Bevölkerungen sehr nahe. Die Anwendung des „ausgedehnten“ Polymorphismus kann sich beim Vaterschaftsnachweis als nützlich erweisen.

Transferrin variants in Tuscany (Italy). Evidence for two “new” Tf alleles

SummaryPolyacrylamide 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.

Study of the APO B Polymorphism in Tuscany (Italy)

The APO B VNTR locus is located next to the 3′ end of the apolipoprotein B gene and consists of a series of AT rich tandem repeats, each 14–16 bp long (for a review about the genetic relationship between the 3′-VNTR and diallelic apolipoprotein B gene polymorphism, see Renges et al, 1992; for a recent proposal of a molecular model, see Desmarais et al 1993). Its polymorphism was described by Boerwinkle et al (1989) and by Ludwig et al (1989) using the PCR technique. Since then, the APO B has become a genetic marker quite frequently used in forensic practice.

Polymorphism of the red cell acid-phosphatase in tuscany by starch-gel thin layer electrophoresis and fluorogenic substrate

SummaryThe red cell acid-phosphatase types were determined in 495 individuals from Tuscany, Italy.The observed frequencies of the three alleles are: ACPinf1supA=0.271; ACPinf1supB=0.665 and ACPinf1supC=0.064.The results obtained by starch-gel thin layer elcetrophoresis and 4 methyl-umbelliferyl-phosphate as fluorogenic substrate are very satisfactory for forensic purposes also.ZusammenfassungDie sauren Erythrocytenphosphatase-Arten wurden bei 495 Personen aus der Toskana bestimmt.Die beobachteten Frequenzen der drei Allelen sind: ACPinf1supA=0,271, ACPinf1supB=0,665 und ACPinf1supC=0,064.Die erzielten Ergebnisse durch Stärkegel-Dünnschicht-Elektrophoresis und 4 methyl-umbelliferyl-phosphate als fluorogenisches Substrat sind auch für forensische Zwecke sehr zufriedenstellend.

Indication for a Silent Allele of Properdin Factor B Polymorphism (BF*Q0) in a Paternity Case

The structural gene of factor B (BF), a component of the alternative complement pathway, is located in the class III region of the major histocompatibility complex (MHC) centromeric to the C2 gene and between the C4 and HLA B genes. Alpern et al (1972) first reported polymorphism of BF, by using immunofixation agarose gel electrophoresis: they identified two common (F and S) and two less common (Fl and S1 = S0.7) alleles, codominant at the same locus. Subsequently, a number of rare variants have been described and a nomenclature has been proposed (Geserick et al 1990). Further isoelectric focusing (IEF) studies revealed the occurrence of BF subtypes (Teng et al 1982; Geserick et al 1983) which could not be demonstrated by standard electrophoresis.

DNA PCR Polymorphisms in Paternity Test Protocols. A Biostatistical Approach

Over the years there has been a continuous increase of the number of genetic polymorphisms which have become available for paternity testing. The range has extended from the red blood cell groups, through serum proteins and erythrocyte enzymes polymorphisms to white cells antigens of the HLA system. With these “classical” markers, the use of several laboratory techniques is needed to achieve a sufficiently high standard of efficiency both in paternity exclusion and inclusion.