title: Molecular analysis of the human orosomucoid gene ORM1*Q0köln responsible for incompatibility in a German paternity case.
abstract: In a German paternity test, an alleged father was excluded only by reverse homozygosity of ORM1 phenotypes (mother ORM1 S, child ORM1 S and alleged father ORM1 F1) out of the 28 classical and DNA markers investigated. Without the ORM1 system the biostatistical probability of paternity was calculated to exceed 99.999%. The intensity of the immunoprinted bands of the ORM1 protein for the child and alleged father after isoelectric focusing appeared to be reduced to about half. To identify a possible null allele, gene-specific amplification followed by single-strand conformation polymorphism and sequencing analyses were carried out. Deletion of one of the two copies of a 4 bp direct repeat sequence (GTCT) in exon 4 of the consensus sequence of ORM1*F1 was observed in the child and alleged father. Thus, the sharing of a rare mutant gene, ORM1*Q0köln, increased the probability of paternity.
authors.affiliation: Department of Legal Medicine, Shimane Medical University, Izumo, 693-8501 Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: K
authors.initials: K
authors.lastname: Umetsu
authors.forename: J
authors.initials: J
authors.lastname: Henke
authors.forename: L
authors.initials: L
authors.lastname: Henke
authors.forename: E
authors.initials: E
authors.lastname: Nanba
authors.forename: K
authors.initials: K
authors.lastname: Kimura
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D008040:Genetic Linkage; D005858:Germany; D006720:Homozygote; D006801:Humans; D008297:Male; D009961:Orosomucoid / Q000235:genetics*; D010334:Paternity; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D009961:Orosomucoid