Genetic Analysis in Japanese Kindreds of Congenital Type I Antithrombin Deficiency Causing Thrombosis

Yoshifumi Nakahara; Hajime Tsuji; Katsumi Nakagawa; Haruchika Masuda; Hidetsugu Kitamura; Hiromi Nishimura; Teruhisa Kasahara; Tatsuya Sugano; Shohei Sawada; Masao Nakagawa

doi:10.1055/s-0038-1656021

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1997; 77(04): 616-619
DOI: 10.1055/s-0038-1656021

Clinical Studies

Schattauer GmbH Stuttgart

Genetic Analysis in Japanese Kindreds of Congenital Type I Antithrombin Deficiency Causing Thrombosis

Yoshifumi Nakahara

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Hajime Tsuji

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Katsumi Nakagawa

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Haruchika Masuda

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Hidetsugu Kitamura

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Hiromi Nishimura

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Teruhisa Kasahara

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Tatsuya Sugano

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Shohei Sawada

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

,

Masao Nakagawa

The Second Department of Medicine, Kyoto Prefectural University of Medicine Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, Japan

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Abstract

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Summary

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 hy 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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Referenzen

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