Simple screening method for copy number variations associated with physical features

Copy number variation (CNV) is a type of genomic structural variation in which segments of DNA 1 kb or longer show variations in copy number relative to the reference genome [1,2]. Chromosomal regions harboring CNVs are estimated to be much larger than those harboring nucleotide substitutions [3], and account for at least 12% of the human genome [2]. A significant proportion of CNVs are considered to affect gene function through dosage alteration, gene disruption or changes in expression level. Recently, it has been shown that a considerable number of CNVs are associated with diseases and other complex human traits, including Parkinson ’s disease [4], Crohn’s disease [5], schizophrenia [6], obesity [7] and short stature [8].

Source: Legal Medicine - January 23, 2017 Category: Forensic Medicine Authors: Misuzu Ueki, Haruo Takeshita, Junko Fujihara, Kaori Kimura-Kataoka, Reiko Iida, Toshihiro Yasuda Source Type: research