title: Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array.
abstract: BACKGROUND
  The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations. We performed genome-wide single nucleotide polymorphism-array in hereditary coagulopathy to delineate the extent of copy number mutations and to assess its diagnostic utility.
  
  
  METHODS
  The study subjects were 17 patients with hereditary coagulopathy from copy number mutations in coagulation genes detected by multiple ligation-dependent probe amplification. Eleven had hemophilia (7 hemophilia A and 4 hemophilia B) and 6 had thrombophilia (4 protein S deficiency and 2 antithrombin deficiency). Single nucleotide polymorphism-array experiments were performed using Affymetrix Genome-Wide Human SNP arrays 6.0.
  
  
  RESULTS
  Copy number mutations were identified by single nucleotide polymorphism-array in 9 patients, which ranged in length from 51 Kb to 6,288 Kb harboring 2 to ~160 genes. Single nucleotide polymorphism-array showed a neutral copy number status in 8 patients including 7 with either a single-exon copy number mutation or duplication mutations of PROS1.
  
  
  CONCLUSIONS
  This study revealed unexpectedly heterogeneous lengths of copy number mutations underlying human coagulopathy. Single nucleotide polymorphism-array had limitations in detecting copy number mutations involving a single exon or those of a gene with homologous sequences such as a pseudogene.
authors: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. heejinkim@skku.edu
authors: Hee-Jin
authors: HJ
authors: Kim
authors: Duk-Kyung
authors: DK
authors: Kim
authors: Ki-Young
authors: KY
authors: Yoo
authors: Chur-Woo
authors: CW
authors: You
authors: Jong-Ha
authors: JH
authors: Yoo
authors: Ki-O
authors: KO
authors: Lee
authors: In-Ae
authors: IA
authors: Park
authors: Hae-Sun
authors: HS
authors: Choung
authors: Hee-Jung
authors: HJ
authors: Kim
authors: Min-Jung
authors: MJ
authors: Song
authors: Sun-Hee
authors: SH
authors: Kim
mesh_terms: D000328:Adult; D025861:Blood Coagulation Disorders, Inherited / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D005260:Female; D018740:Genetic Heterogeneity; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult