Protein C Deficiency in a Family with Thromboembolism and Identified Gene Mutations

被引：10

作者：

Hoshi, Sakuo ^{[1
,2
]}

Hijikata, Minako ^{[3
]}

Togashi, Yuuki ^{[1
]}

Aoyagi, Tetsuji ^{[1
]}

Kono, Chiyoko ^{[1
]}

Yamada, Yoshihito ^{[1
]}

Amano, Hiroko ^{[1
]}

Keicho, Naoto ^{[3
]}

Yamaguchi, Tetsuo ^{[1
]}

机构：

[1] JR Tokyo Gen Hosp, Tokyo, Japan

[2] Doai Mem Hosp, Tokyo, Japan

[3] Int Med Ctr Japan, Res Inst, Tokyo, Japan

来源：

INTERNAL MEDICINE | 2007年 / 46卷 / 13期

关键词：

protein C deficiency; missense mutation; pulmonary thromboembolism; promoter polymorphism; hotspot;

D O I：

10.2169/internalmedicine.46.6277

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169Trp, which was previously reported. The other two are C-154T promoter polymorphism (rs1799808 on dbSNP database), the function of which is unkonwn and Ser99Ser synonymous polymorphism (rs5936). All three mutations were found in a 24-year-old patient with pulmonary thromboembolism and his 54-year-old father who also had pulmonary thromboembolism. C-154T promoter polymorphism (rs1799808 on dbSNP database) and Ser99Ser synonymous polymorphism (rs5936) were found in the patient's mother.

引用

页码：997 / 1003

页数：7

共 27 条

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