title: Application of immobilized pH gradient isoelectric focusing to forensic hemogenetics: a survey on a three year experience with the transferrin (TF) and alpha 1-antitrypsin (PI) systems.
abstract: The subtypes of transferrin (TF) and alpha 1-antitrypsin (PI), first discovered using isoelectric focusing, are now mostly determined in immobilized pH gradient gels. We report on our experience in the parentage expertise with both polymorphisms over a period of three years. The complexity of the technology was compensated by the fact that most subtypes of TF and PI could be more reliably recognized. The PI alleles PI*M1, M2, M3, S, F, T, and Z and TF alleles TF*C1, C2 and C3, and in addition four further rare TF alleles were observed. The allele frequencies from non-related individuals did not deviate from the Hardy-Weinberg equilibria and corresponded well to known frequencies from West Germany and other Caucasoid populations. With the TF system 36 accused men, and with the PI system 54 were excluded from paternity from a total of 344 (TF) respectively 347 (PI) cases. From the data presented here isoelectric focusing in immobilized pH gradient gels appears to be a major improvement over carrier ampholyte generated pH gradients in the distinction of TF and PI phenotypes.
authors.affiliation: Hygiene-Institut der Universität, Köln, Federal Republic of Germany.
authors.forename: U
authors.initials: U
authors.lastname: Skoda
authors.forename: L
authors.initials: L
authors.lastname: Fassbender
authors.forename: C
authors.initials: C
authors.lastname: Händler
authors.forename: G
authors.initials: G
authors.lastname: Mauff
authors.forename: G
authors.initials: G
authors.lastname: Pulverer
mesh_terms: D000483:Alleles; D005860:Germany, West; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007231:Infant, Newborn; D007525:Isoelectric Focusing / Q000379:methods; D008297:Male; D010334:Paternity; D010641:Phenotype; D011110:Polymorphism, Genetic; D014168:Transferrin / Q000032:analysis / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*
chemical_list: D014168:Transferrin; D000515:alpha 1-Antitrypsin