ITIH1*Q0iwate, a null allele of inter-alpha-trypsin inhibitor H1 caused by deletion/frameshift mutation.
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.
Nakayashiki
N
N
Department of Legal Medicine, Iwate Medical University School of Medicine Morioka, Japan.
Ding
M
M
Umetsu
K
K
Yuasa
I
I
Suzuki
T
T
Aoki
Y
Y
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
D000510:Alpha-Globulins; C011877:inter-alpha-inhibitor