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In Italy, judicial and extrajudicial requests for paternity testing have increased in recent years. A retrospective analysis of such private extrajudicial requests received by the legal medicine unit of the Department of Environmental Medicine and Public Health of Padua University was conducted to identify problem areas most helpful in determining whether to accept private parties' requests for paternity testing. Such testing is most delicate when a presumptive father may be seeking to disown paternity and when testing is wanted without the consent of a member of the mother-child-father triangle. Tests that could establish paternity where none has been recognised are less problematic, as the child will not lose out. Legal and ethical-deontological aspects of consent, of the protection of minors and of children's and parents' need for follow-up interviews to deal with the outcome of such testing are carefully considered by the Padua University team when deciding whether to accept a request for testing. It is argued that because such issues are not dealt with by mail-order laboratories, the use of such services is inappropriate.

Human red cell Esterase D (EsD) was analyzed by isoelectric focusing (IEF) on ultrathin-layer polyacrylamide gel with a pH range of 5.0–6.0. Hemolysates were treated with Dithiothreitol to avoid loss of activity and change of the isozyme patterns by in vitro storage effects. In our sample of 951 unrelated persons from Veneto, seven different phenotypes were observed. The following allele frequencies were calculated: EsD1=0.8476, EsD2=0.1336, EsD5=0.0178, and EsDV=0.0010.

Die Asmat sind eine ca. 35 000 Individuen starke Bevölkerung an der Südwestküste von Irian-Jaya (Indonesien; Neu-Guinea). In dieser Untersuchung werden die Ergebnisse von Enzym- und Serumproteingruppenbestimmungen in einer Stichprobe der Asmats aus der Küstenregion von Agats mitgeteilt. An 154 Individuen konnten die folgenden Enzympolymorphismen bestimmt werden: EaP, PGM1, 6-PGD, EsD, ADA und AK. Die Serumproteinpolymorphismen Gc, alpha1-AT, PLG, Tf und Hp wurden bei 160 Individuen ermittelt. Die Ergebnisse dieser Untersuchung werden im einzelnen diskutiert.

We determined the precise genetic location of the human endothelin-1 gene (EDN1), which encodes a peptide with extremely potent vasoactive properties and is apparently involved in a spectrum of diseases ranging from hypertension to asthma. Analyzing the segregation of a four-allele EDN1 polymorphism in 40 CEPH families including 480 individuals, we detected significant linkage of EDN1 to DNA markers spanning the telomeric half of chromosome arm 6p. EDN1 was closest to the highly polymorphic nucleotide-repeat marker D6S89 at a theta = 0.06 with the highest pairwise LOD score Zmax = 31.2. Subsequent multipoint analysis placed EDN1 at 8 cM distal to D6S89; EDN1 was flanked at its telomeric site at a 13-cM distance by the gene encoding the A subunit of blood clotting factor XIII (F13A1). Furthermore, EDN1 was located at approximately 34–36 cM distal to the HLA region defined by HLA-A, -B, and -DRB1, and 31 cM proximal to the most telomeric marker D6S7. This location of EDN1 on the primary genetic map is strongly supported with odds of 2.7 × 1012:1 against the next best alternative.

The distribution of Bf phenotypes in the population of Veneto was investigated by agarose gel electrophoresis and immunofixation. In our sample (n=592), the seven common phenotypes F, S, F-S, S-S0.7, S-F1, F-S0.7, F-F1 were observed and the following gene frequencies calculated: Bf*S=0.7399; Bf*F=0.2280; Bf*F1=0.0177; Bf*S0.7=0.0144. These gene frequencies are compared to those found in other populations. Analysis of 21 mother-child pairs was in agreement with an autosomal codominant inheritance.

The distribution of plasminogen phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n=1325), the three common phenotypes PLG1, PLG2, PLG2-1 and two further phenotypes PLG1-V and PLG2-V were, observed and the following frequencies calculated: PLG1=0.84038; PLG2=0.15811; PLGV=0.00151. These gene frequencies are compared to those found in other populations. Analysis of 41 mother-child pairs was in agreement with an autosomal codominant inheritance.

The distribution of Gc phenotypes in the population of Veneto was investigated by ultrathin-layer isoelectric focusing. In our sample (n=732) the six common phenotypes, Gc1S, 1F, 1S1F, 2, 2-1S, 2-1F and a further phenotype, Gc1S1C3, were observed and the following frequencies calculated: Gc1S=0.560792; Gc1F=0.159153; Gc2=0.277323; Gc1C3=0.002732. Our gene frequencies have been compared with those found in other populations.

In this study, we describe a pentaplex PCR to determine the parental origin of the X chromosome and the presence of mosaicism, via amplification of four polymorphic markers located along the X chromosome (DXS10011, DXS6807, HUMARA, DXS101) and the X-Y amelogenin marker, in 41 families having a daughter with Turner Syndrome. Our results confirmed the cytogenetic findings and we found that the parental origin of the single X chromosome to be maternal in 84% of cases.