COPY NUMBER VARIANTS: DISTRIBUTION IN PATIENTS WITH CORONARY ATHEROSCLEROSIS

被引：2

作者：

Gancheva, K. ^{[1
]}

Postadjian, A. ^{[2
]}

Brazma, D. ^{[3
]}

Grace, C. ^{[3
]}

Chanalaris, A. ^{[3
]}

Nacheva, E. ^{[3
]}

Apostolova, M. D. ^{[1
]}

机构：

[1] Bulgarian Acad Sci, Lab Med & Biol Res, Inst Mol Biol Acad Rumen Tsanev, Sofia, Bulgaria

[2] Univ Hosp St Anna, Clin Cardiol, Sofia, Bulgaria

[3] Royal Free & UCL Med Sch London, Dept Haematol, Cytogenet Lab, London, England

来源：

BIOTECHNOLOGY & BIOTECHNOLOGICAL EQUIPMENT | 2009年 / 23卷 / 01期

关键词：

atherosclerosis; array comparative genomic hybridization (aCGH); copy number variations (CNVs); SEGMENTAL DUPLICATIONS; STRUCTURAL VARIATION; POLYMORPHISM; GENOME; GENE; IMBALANCES; DELETIONS; DNA;

D O I：

10.1080/13102818.2009.10817620

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The aim of this study was to investigate the distribution of CNVs in patients with coronary atherosclerosis and to assess the association between them. A total number of 31 subjects (13 Females and 18 Males) were involved in the study. They were divided into two groups according to the clinical diagnosis. The first group consisted of 21 patients with non-ST segment elevation ACS (unstable angina and non ST elevation myocardial infarction) and the second - from 10 healthy subjects. The number of CNVs observed using aCGH kit was 334. One hundred and twenty six (37.73%) are newly observed, 153 out of all 334 were from gene coding regions. The genes, which contain newly descrined CNVs, and their products were found to have role in cellular metabolism, regulation of transcription, transport and signal transduction. The present study suggests that there is a relation between CNVs described by us and the possible processes involved in the development of CAD. These observations need to be verified on a larger group of patients to clarify the role of these possible links.

引用

页码：1095 / 1100

页数：6

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