title: [An alpha-1-antitrypsin deficiency allele PI*Siiyama found in a disputed paternity case].
abstract: An incompatible mother-child pair was found in an alpha-1-antitrypsin (PI) system in a disputed paternity case. By the isoelectric focusing, the PI type of the mother and the child were confirmed PI M1 and PI M2, respectively. Testing of many other genetic markers could not exclude her motherhood. Therefore, the mother and the child were inferred to be heterozygous carriers of a PI deficiency allele. PCR-SSCP analysis of exon 2 suggested that the PI types of the mother and the child are heterozygous M1-Siiyama and M2-Siiyama, respectively.
authors.affiliation: Department of Forensic Medicine, Yamagata University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Umetsu
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: G
authors.initials: G
authors.lastname: Watanabe
authors.forename: M
authors.initials: M
authors.lastname: Ding
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010334:Paternity; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin