中国中医药信息杂志Issue(11)：4-7,60,5.DOI:10.3969/j.issn.1005-5304.2013.11.003
阳虚质者基因组拷贝数变异小样本研究
A Small-scale Study on Genomic Copy Number Variation in Yang-deficiency Constitution Subjects
摘要
Abstract
Objective To explore the genetic mechanism of Yang-deficiency constitution by detecting genomic copy number variations (CNVs). Methods Thirty cases of Yang-deficiency constitution and 30 cases of balanced constitution were included according to the standards of Classification and Determination of Constitution in Traditional Chinese Medicine. DNA was extracted from white blood cells in peripheral blood. A genome-wide association study was conducted by using Affymetrix SNP 6.0 platform. CNVs of each sample were analyzed using PennyCNV software. The Yang-deficiency constitution-specific copy number variation regions (CNVRs) of each autosome were identified. CNVR-related genes and their annotations were searched at online Human Genome Browser. Results The mean number of CNVs in balanced constitution group was 12.63±3.39, ranging from 8 to 20. After stepwise elimination of two Yang-deficiency constitution subjects, the mean number of CNVs in Yang-deficiency constitution group was 15.04±8.95, ranging from 2 to 38. A total of 26 CNVRs were identified from 28 Yang-deficiency constitution subjects, including 19 duplicated CNVRs, 6 deleted CNVRs, and 1 mixed type CNVR. Most CNVRs were shared by a few Yang-deficiency constitution subjects, and only 7 CNVRs were shared by more than 5 Yang-deficiency constitution subjects. The functions of representative genes in Yang-deficiency constitution-specific CNVRs were related with extracellular and intracellular signal transduction, metabolic regulation, and immune response, etc. Conclusion Yang-deficiency constitution subjects have some specific genomic CNVs, which might result in Yang-deficiency constitution phenotypes by influencing the expression of genes associated with extracellular and intracellular signal transduction, material metabolism (energy metabolism), and immune response, etc.关键词
阳虚质/遗传机制/拷贝数变异Key words
Yang-deficiency constitution/genetic mechanism/copy number variation分类
医药卫生引用本文复制引用
姚实林,张祖志,吴君霞,程楠,许霞,解光艳,曹健..阳虚质者基因组拷贝数变异小样本研究[J].中国中医药信息杂志,2013,(11):4-7,60,5.基金项目
国家自然科学基金(81072715) （81072715）
