title: Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis.
abstract: We have identified two novel minor deletions (case 1; -TA or -AT at nucleotide 9831-3 in exon 5 and case 2; -A at nucleotide 7640-1 in exon 4), one novel nonsense mutation (case 3; TAT to TAA at nucleotide 7491 in exon 4), and one recurrent nonsense mutation (case 4; CGA to TGA at nucleotide 5381 in exon 3A) in Japanese kindreds with congenital type I antithrombin deficiency. The deletion detected in case 1 represented a symmetric element (CTCTGTCTC) and possessed a direct repeat (CTCTATGTCTC). The deletion in case 2 was recognized in a consensus sequence (TGAAT) and possessed a direct repeat (GATGAA). The nonsense mutation in case 3 formed a palindrome (CCGTTAACGG) and that in case 4 was caused by a CpG dinucleotide mutation. These results confirm that the mutations of congenital type I antithrombin deficiency are not random events but are influenced strongly by DNA sequences.
authors.affiliation: Second Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahara
authors.forename: H
authors.initials: H
authors.lastname: Tsuji
authors.forename: K
authors.initials: K
authors.lastname: Nakagawa
authors.forename: H
authors.initials: H
authors.lastname: Masuda
authors.forename: H
authors.initials: H
authors.lastname: Kitamura
authors.forename: H
authors.initials: H
authors.lastname: Nishimura
authors.forename: T
authors.initials: T
authors.lastname: Kasahara
authors.forename: T
authors.initials: T
authors.lastname: Sugano
authors.forename: S
authors.initials: S
authors.lastname: Sawada
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
mesh_terms: D000328:Adult; D020152:Antithrombin III Deficiency; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D013923:Thromboembolism / Q000235:genetics*; D013924:Thrombophlebitis / Q000235:genetics*