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Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis

Nakahara, Y.; Tsuji, H.; Nakagawa, K.; Masuda, H.; Kitamura, H.; Nishimura, H.; Kasahara, T.; Sugano, T.; Sawada, S.; Nakagawa, M.

Thrombosis and Haemostasis 77(4): 616-619

1997

ISSN/ISBN: 0340-6245
PMID: 9134630
Document Number: 472007
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 Japanease 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.

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