De novo *** copy number variations in multiple sclerosis susceptibility

作     者：Kalthoum Tizaoui 

作者机构：Department of Basic SciencesMedicine Faculty of TunisTunis El Manar University15 Rue Djebel LakdarTunis 1007Tunisia 

出 版 物：《Cellular & Molecular Immunology》 (中国免疫学杂志（英文版）)

年 卷 期：2018年第15卷第9期

页      面：812-814页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：dosage collective number 

摘      要：The Human Genome Project has identi-fied,along with single nucleotide polymorphisms(SNPs),a range of other DNA sequence variations,including insertions and deletions of nucleotides and translocations of various segments of a chromosome.1 These variations have,collectively,been named copy number variants(CNVs).1 They represent a major source of genomic variation,with nearly 1500 variable regions covering approximately 12%of the human genome.2 A CNV could act directly by affecting gene dosage and gene expression through complex *** is thought,therefore,that CNVs in genedosage sensitive genes may have considerable influence on disease susceptibility.2 Among genes overlapped by CNVs,significant enrichments in certain gene ontology categories have been identified,including those related to immune responses and interaction with the environment.3 CNVs have already been associated with several monogenic,syndromic and complex diseases.