Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms

被引：34

作者：

Wang, XJ

Tromp, G

Cole, CW

Verloes, A

Sakalihasan, N

Yoon, S

Kuivaniemi, H

机构：

[1] Wayne State Univ, Sch Med, Ctr Mol Med & Genet, Detroit, MI 48201 USA

[2] Dalhousie Univ, Halifax, NS, Canada

[3] Univ Liege, Wallonia Ctr Human Genet, Liege, Belgium

[4] Sart Tilman Univ Hosp, Dept Cardiovasc Surg, Liege, Belgium

来源：

MATRIX BIOLOGY | 1999年 / 18卷 / 02期

关键词：

aortic aneurysms; connective tissue; direct sequencing; intracranial aneurysms; polymorphism;

D O I：

10.1016/S0945-053X(99)00008-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Aneurysms are characterized by dilation, i.e. expansion and thinning of all the arterial wall layers, which is accompanied by remodeling of the connective tissue. Genes involved in the regulation of tissue remodeling are therefore candidate genes. We analyzed TIMP1 and TIMP2 coding sequences in 12 individuals with abdominal aortic aneurysms (AAA), one individual with AAA and intracranial aneurysms (IA), four individuals with IA and two clinically unaffected individuals. We identified two nucleotide variants in both the TIMP1 and the TIMP2 coding sequences. All differences occurred in the third base positions of codons and were neutral polymorphisms. A significant difference was observed in the frequency of TIMP2 nt 573 polymorphism between 168 alleles from AAA patients and 102 control alleles. (C) 1999 Elsevier Science B.V./International Society of Matrix Biology. All rights reserved.

引用

页码：121 / 124

页数：4

共 13 条

[1] AN 8TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS LINKED TO CHROMOSOME-17Q [J].