title: ITIH1*Q0iwate, a null allele of inter-alpha-trypsin inhibitor H1 caused by deletion/frameshift mutation.
abstract: The molecular characterization of the first example of null allele in the inter-alpha-trypsin inhibitor H1 (ITIH1) system, ITIH1*Q0iwate, encountered as apparent inverse homozygosity of ITIH1 phenotypes between mother and child in a paternity case, is described. Single-strand conformation polymorphism analysis and subsequent sequencing showed that deletion of a single nucleotide in the codon for Lys87 results in a frameshift causing a terminator codon downstream of the deletion. This leads to premature termination of ITIH1 protein translation at amino acid 128, resulting in a truncated protein.
authors.affiliation: Department of Legal Medicine, Iwate Medical University School of Medicine Morioka, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Nakayashiki
authors.forename: M
authors.initials: M
authors.lastname: Ding
authors.forename: K
authors.initials: K
authors.lastname: Umetsu
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Aoki
mesh_terms: D000483:Alleles; D000510:Alpha-Globulins / Q000737:chemistry / Q000235:genetics*; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010334:Paternity; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D000510:Alpha-Globulins; C011877:inter-alpha-inhibitor