title: Genetic structures of copy number variants revealed by genotyping single sperm.
abstract: BACKGROUND
  Copy number variants (CNVs) occupy a significant portion of the human genome and may have important roles in meiotic recombination, human genome evolution and gene expression. Many genetic diseases may be underlain by CNVs. However, because of the presence of their multiple copies, variability in copy numbers and the diploidy of the human genome, detailed genetic structure of CNVs cannot be readily studied by available techniques.
  
  
  RESULTS
  Single sperm samples were used as the primary subjects for the study so that CNV haplotypes in the sperm donors could be studied individually. Forty-eight CNVs characterized in a previous study were analyzed using a microarray-based high-throughput genotyping method after multiplex amplification. Seventeen single nucleotide polymorphisms (SNPs) were also included as controls. Two single-base variants, either allelic or paralogous, could be discriminated for all markers. Microarray data were used to resolve SNP alleles and CNV haplotypes, to quantitatively assess the numbers and compositions of the paralogous segments in each CNV haplotype.
  
  
  CONCLUSIONS
  This is the first study of the genetic structure of CNVs on a large scale. Resulting information may help understand evolution of the human genome, gain insight into many genetic processes, and discriminate between CNVs and SNPs. The highly sensitive high-throughput experimental system with haploid sperm samples as subjects may be used to facilitate detailed large-scale CNV analysis.
authors.affiliation: Department of Molecular Genetics, Microbiology, and Immunology/The Cancer Institute of New Jersey, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America.
authors.forename: Minjie
authors.initials: M
authors.lastname: Luo
authors.forename: Xiangfeng
authors.initials: X
authors.lastname: Cui
authors.forename: David
authors.initials: D
authors.lastname: Fredman
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Brookes
authors.forename: Marco A
authors.initials: MA
authors.lastname: Azaro
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Greenawalt
authors.forename: Guohong
authors.initials: G
authors.lastname: Hu
authors.forename: Hui-Yun
authors.initials: HY
authors.lastname: Wang
authors.forename: Irina V
authors.initials: IV
authors.lastname: Tereshchenko
authors.forename: Yong
authors.initials: Y
authors.lastname: Lin
authors.forename: Yue
authors.initials: Y
authors.lastname: Shentu
authors.forename: Richeng
authors.initials: R
authors.lastname: Gao
authors.forename: Li
authors.initials: L
authors.lastname: Shen
authors.forename: Honghua
authors.initials: H
authors.lastname: Li
mesh_terms: D004591:Electrophoresis, Polyacrylamide Gel; D018628:Gene Dosage; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D013094:Spermatozoa / Q000378:metabolism*
chemical_list: D005819:Genetic Markers