title: Three new orosomucoid (ORM) variants revealed by isoelectric focusing and print immunofixation.
abstract: Phenotypes of orosomucoid (ORM) in human sera have been analysed by isoelectric focusing and print immunofixation. After neuraminidase treatment the band patterns indicated that the polymorphism of the structural locus ORM1 is controlled by three autosomal codominant alleles. According to the previous nomenclature they were called ORM1F1, ORM1F2, and ORM1S. In a study of 272 unrelated individuals from southern Germany, five of the six expected common ORM1 subtypes were observed. Furthermore, we found three ORM variant phenotypes which have not been reported previously. These variants were characterized by additional bands in a cathodal position. One variant had additional double bands and presumably represents a rare ORM1 variant named ORM1S1. Two variants had additional single bands. They were assigned tentatively to the ORM2 gene locus. While the common gene product of ORM2 may be called ORM2A, the two variants are named ORM2B1 and ORM2B2, respectively. ORM2B1 has, thus far, been found only in a single individual; the variants ORM1S1 and ORM2B2 were found in a father-child pair and a mother-child pair, respectively. The frequency for variants tentatively assigned to the ORM2 locus is very low and was calculated to be 0.0037.
authors: Institut für Anthropologie, Humangenetik der Universität, München, Federal Republic of Germany.
authors: S
authors: S
authors: Weidinger
authors: T
authors: T
authors: Müller
authors: F
authors: F
authors: Schwarzfischer
authors: H
authors: H
authors: Cleve
mesh_terms: D000483:Alleles; D005006:Ethnicity; D005787:Gene Frequency; D006801:Humans; D007525:Isoelectric Focusing; D009961:Orosomucoid / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D009961:Orosomucoid