Ismail M. Sebetan

A simple method for calculating the probability of excluding paternity with any number of codominant alleles

Abstract A simple formula for calculating the probability of excluding paternity with a system determined by any number of codominant alleles was devised. Two computer programs are also described, which can be used when the genetic system is much more complicated.

Estimation of Post-Mortem Interval from Rectal Temperature by Use of Computer

The simulation model of the approximate equations derived from the infinite cylinder was used to investigate the applicability of the theoretical curve to the actual one of rectal temperature. The rectum was found by the computer tomography to be near to the junction of the anterior three-quarters and the posterior quarter inside the body, and this result was employed in the simulation. The method of estimating the postmortem interval, in which two recordings of rectal temperature were used, was considered to be useful enough as it can be applied to any case in practice. As reported by Akaishi et al., fluctuation of less than 2 °C in the ambient temperature was shown by the simulation to have little effect on the rectal temperature curve.

Detection of diatoms in blood by a combination of membrane filtering and chemical digestion

An improved method for detecting diatom in blood is reported. Blood of cadavers was obtained by cardiac puncture at inquest or from the left atrium directly at autopsy. The blood was hemolyzed by sodium dodecyl sulfate (SDS) and filtered through membrane filter (47 mm in diameter and 5 microns in pore size). When the blood was putrefied, two or three pieces of membranes filters were needed because of choking membrane pore. The membrane filters were digested with fuming nitric acid and diluted with distilled water. The diluted solution was filtered through membrane filter (25 mm in diameter) again. After drying the membrane filter was immersed in oil. Diatoms on the membrane filter were clearly observed microscopically.

Estimation of postmortem interval from rectal temperature by use of computer--relationship between the rectal and skin cooling curves.

The deep body temperatures at depths of 0.5 cm and of 1 cm and the skin and rectal temperatures of the living rabbit were monitored in order to clarify the initial condition. It was revealed that there is a temperature gradient similar to the logarithmic curve from the core to the surface. Taking this temperature gradient into consideration, the computer simulation model composed of the approximate equations was used to investigate the adaptability of the theoretical cooling curves to the experimental rectal and skin cooling curves. Our computer simulation model proved that the theoretical cooling curves reproduced well both the experimental rectal and skin cooling curves regardless of changes in the ambient temperature.

PI*E tripoli : a new allele in the alpha-1-antitrypsin system

Genetic variants of the human serum alpha 1-antitrypsin (PI system) were analyzed in a population sample of 110 unrelated Libyans. Four common PI M variants and 3 rare ones, including a new anodal variant designated PI E Tripoli (PI ET) were identified. The estimated allele frequencies were: PI*M1 = 0.623; PI*M2 = 0.205; PI*M3 = 0.132; PI*M4 = 0.018; PI*ET = 0.005; PI*S = 0.005, and PI*T = 0.014.

Genetic polymorphism of desialyzed alpha2 HS-glycoprotein by ultrathin isoelectric focusing

SummaryThe genetically determined polymorphism of α2 HS-glycoprotein was analyzed by immunoblotting ultrathin-layer polyacrylamide gel isoelectric focusing in the pH range 4–6.5 and neuraminidase pretreated sera. In a Libyan population sample from Tripoli (n=110) three common phenotypes, α2 HSG 1–1, 2–1, and 2–2, were observed. The allele frequencies were α2 HSG1=0.8364 and α2 HSG2=0.1636. The theoretical exclusion rate in cases of disputed paternity is 11.8%.ZusammenfassungDer genetisch determinierte Polymorphismus des α2 HS-Glykoproteins wurde mit der isoelektrischen Fokussierung auf einer ultradünnen Schicht von Polyacrylamidgel in einem pH-Bereich von 4–6.5 und anschließenden Immunoblotting von Serumproben nach Behandlung mit Neuraminidase durchgeführt. Bei Libyern aus Tripoli (n=110) wurden die drei häufigen Phänotypen α2 HSG 1–1, 2–1 und 2–2 beobachtet. Folgende Allel-Frequenzen wurden ermittelt: α2 HSG1=0.8364 und α2 HSG2=0.1636. Aufgrund unserer Untersuchungsergebnisse errechnet sich für das α2 HSG-System eine theoretische Ausschlußchance von 11.8%.

A new method for FXIIIA genetic variants determination using isoelectric focusing in 1 M urea

SummaryA new method for separating genetic variants of the A subunit of human coagulation factor XIII using ultrathin layer polyacrylamide gel isoelectric focusing in 1M urea followed by immunoblotting is described. The pattern obtained by this method differs from that reported previously: Three sets of unrelated band patterns are observed and can be explained by the existence of two additional gene loci, designated FXIIIA2 and FXIIIA3, besides the previously reported FXIIIA locus, now renamed FXIIIA1. The FXIIIA2 locus is polymorphic and shows three commonly occurring phenotypes, FXIIIA2 1, FXIIIA2 2-I, and FXIIIA2 2. These are determined by two common alleles, FXIIIA2*1 and FXIIIA2*2, with respective frequencies of 0.7965 and 0.2035 in the Japanese population. The studied population conforms to a Hardy-Weinberg equilibrium, and family data confirmed autosomal codominant transmission. The FXIIIA3 locus is monomorphic.

Transferrin (Tf) polymorphism: An analysis by isoelectric focusing

The polymorphism of the transferrin (Tf) system was studied in a total of 300 unrelated Japanese individuals from Miyagi prefecture, the northern part of Japan using isoelectric focusing in thin-layer polyacrylamide gel. In our population samples three common phenotypes and nine variants were observed. The calculated allele frequencies were TfC1 = 0.773, TfC2 = 0.212, TfDchi (Chinese) = 0.008, and the combined frequencies for the TfBvar (variants) = 0.007. Family data (n = 44) were in accordance with an autosomal codominant fashion of inheritance. The use of isoelectric focusing procedure among Japanese will raise the probability of excluding a man falsely accused of paternity to 15.8% as compared with 1.5% when the conventional electrophoretic methods are used.

Genetic polymorphisms of orosomucoid ORM1 and ORM2 in a Japanese population: occurrence of new ORM1 alleles

SummaryGenetic polymorphisms of orosomucoid ORM1 and ORM2 in a Japanese population from northern Japan were investigated using isoelectric focusing (IEF) in ultrathin layer polyacrylamide gels containing Triton X-100 and immunofixation. Nine ORM1 phenotypes which are determined by four common and one rare alleles were observed. Two of the identified alleles at this locus were considered to be new. The ORM2 pattern was classified into 14 phenotypes as products of one common and two variant alleles. The estimated allele frequencies were ORM1*1=0.668, ORM1*2=0.170, ORM1*2.1=0.136, ORM1*5.2=0.022 and ORM1*7=0.004; ORM2*1=0.972, ORM2*3=0.006 and ORM2*6=0.022.ZusammenfassungDie genetischen Polymorphismen des Orosomucoids ORM1 and ORM2 wurden mit Hilfe der Isoelektrofokussierung und Immunfixation in einer Stichprobe von 232 nicht verwandten Personen aus der nördlichen Region Japans untersucht. Die folgende Allelfrequenzen wurden ermittelt: ORM1*1=0.668, ORM1*2=0.170, ORM1*2.1=0.136, ORM1*5.2=0.022 und ORM1*7=0.004; ORM2*1=0.972, ORM2*3=0.006 und ORM2*6=0.022.

Genetic polymorphisms of orosomucoid ORM1 and ORM2 in libyans: Occurrence of ORM1 * 2.1 and three new ORM2 alleles

SummaryGenetic polymorphisms of human serum orosomucoid ORM1 and ORM2 gene loci were investigated in a Libyan population sample from Tripoli, n=110, using isoelectric focusing in ultrathin layer polyacrylamide gel containing either Triton X-100 or N-(2-acetamido)-2-aminoethanesulfonic acid (ACES) with subsequent immunofixation. In ORM1 locus, six common phenotypes ORM1 1-1, ORM1 2-1, ORM1 2-2, ORM1 2.1-1, ORM1 2.1-2 and ORM1 3-1 were identified, with allele frequencies as follows: ORM1*1=0.6500, ORM1*2=0.3091, ORM1*2.1=0.0318 and ORM1*3=0.0091. In ORM2 locus, one common phenotype ORM2 1 and four new heterozygote types represent products of three new variant alleles tentatively designated ORM2* Tripoli 1, ORM2* Tripoli 2 and ORM2* Tripoli 3 were observed. In addition, one subject in which no ORM2 was detectable, the phenotype ORM2 0-0 is suggested. The ORM2 allele frequencies were ORM2*1=0.9816, ORM2* Tripoli 1=0.0092, ORM2* Tripoli 2=0.0046 and ORM2* Tripoli 3=0.0046.