Genetic polymorphism of the B subunit of coagulation factor XIII in Libyans: occurrence of a fourth common allele, FXIIIB*6

FXIIIB phenotypes were determined in neuraminidase-pretreated serum samples by using isoelectric focusing in ultrathin-layer polyacrylamide gels containing 1 M urea and subsequent immunoblotting. In a Libyan population sample from Tripoli, (n = 108) nine different phenotypes as products of four common alleles were recognized, with frequencies as follows: FXIIIB*1 = 0.6574, FXIIIB*2 = 0.2454, FXIIIB*3 = 0.0741 and FXIIIB*6 = 0.0231. It is suggested that FXIIIB*6 is the fourth common allele of the FXIIIB system in this population.     

Simultaneous diagnosis of coagulation factor XIIA (F13A) and plasminogen (PLG) phenotypes by polyacrylamide gel isoelectric focusing.

In this paper, we report a simple rapid method for simultaneous determination of Coagulation Factor XIIIA (F13A) and plasminogen (PLG) phenotypes by PAGIF with a nominal pH range of 3.5 to 10, followed by immunofixation and silver stain. Critical considerations concerning the conditions of molecular separation and detection strategies are also presented.     

Gc subtypes determined by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy)

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, Gc 1S, 1F, 1S1F, 2, 2-1S, 2-1F and a further phenotype, GC 1S1C3, were observed and the following frequencies calculated: Gc 1S = 0.560792; GC 1F = 0.159153; Gc2 = 0.277323; Gc 1C3 = 0.002732. Our gene frequencies have been compared with those found in other populations.     

The polymorphism of plasminogen (PLG) by ultrathin-layer isoelectric focusing. Distribution in the Veneto population (Italy)

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.     

Orosomucoid (ORM) typing by isoelectric focusing: description of two new alleles in a German population and thermostability in bloodstains

The genetic polymorphism of serum orosomucoid (ORM) was studied in 168 unrelated German individuals using isoelectric focusing followed by immunoprinting. Two new alleles, tentatively designated ORM1*14 and ORM2*13, were identified. The method was successfully applied to demonstrate ORM1 types in dried bloodstains. Each type of ORM1 was also correctly determined in bloodstains heated at 130 degrees C for 30 min. The results indicated that ORM1 is a new powerful genetic marker system for the grouping of bloodstains.     

Genetic study of red cell esterase D polymorphism by ultrathin layer isoelectric focusing. Distribution in the Veneto population (Italy)

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.     

A new allele of the short tandem repeat (STR) locus, CSF1PO.

CSF1PO is one of the thirteen core loci used for the CODIS database, and alleles reported for this short tandem repeat (STR) locus contain from 6 to 15 repeats of the tetranucleotide AGAT. Screening of DNA from 76 individuals by gel electrophoresis and silver stain detection yielded one sample that contained a rare, off-ladder CSF1PO allele; an allele larger than CSF1PO15 was detected in a heterozygote that also contained a CSF1PO10 allele. Capillary electrophoresis analysis using GeneScan software demonstrated that the variant allele contained four bases more than CSF1PO15. Following agarose gel electrophoresis to separate the two alleles of the heterozygote and cycle sequencing using dye terminators, sequence analysis showed that the variant, which was otherwise identical to the CSF1PO GenBank sequence, contained exactly 16 AGAT repeats. These results demonstrate the existence of an additional CSF1PO allele, a previously unreported size variant, CSF1PO16.     

Automated fluorescence analysis of CAG repeats at the human androgen receptor gene (HUMARA): evaluation of polymorphism in an Italian sample and report of a new allele.

The HUMARA CAG repeats polymorphism was studied in an Italian population sample. Polymerase chain reaction amplification and automated fluorescent analysis were used. A total of 19 and 15 repeats was observed in female and male subjects, respectively, and one new allele was found. The authors conclude that this X-linked short tandem repeat, typed without ambiguity and with a heterozygosity of 0.902, is useful in parentage testing of female subjects.     

Insects found on a human cadaver in central Italy including the blowfly Calliphora loewi (Diptera, Calliphoridae), a new species of forensic interest

In the case of unidentified bodies the estimation of the period since death or of the season of death plays an important role to focus the attention on a reduced number of people among the ones reported missing. Forensic entomology can be one of the most important methods for these estimations, as occurred in this case. Flies are typically the first insects to colonize a dead body. The case reported here concerns the colonisation by insects of a male body in advanced decay found during the winter in Central Italy. This case is of particular interest as few data are available on the entomological evidence in the cold season. In particular, in this case we recovered Calliphora loewi (Calliphoridae), a species never collected before on dead bodies in Southern Europe. Larvae of the black soldier fly Hermetia illucens (Stratiomyidae), pupae and larvae belonging to genus Hydrothea (Muscidae), and Necrobia rufipes (Cleridae) specimens were also collected. The estimated PMI enabled identification of the cadaver, confirmed by DNA analysis.