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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. DESIGN AND 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.

SUBMITTER: Kim HJ 

PROVIDER: S-EPMC3269493 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature

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Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array.

Kim Hee-Jin HJ   Kim Duk-Kyung DK   Yoo Ki-Young KY   You Chur-Woo CW   Yoo Jong-Ha JH   Lee Ki-O KO   Park In-Ae IA   Choung Hae-Sun HS   Kim Hee-Jung HJ   Song Min-Jung MJ   Kim Sun-Hee SH  

Haematologica 20111011 2


<h4>Background</h4>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.<h4>Design and methods</h4>The study subjects were 17 patients with hereditary coagulopathy from copy number mutations in coagulation genes detected  ...[more]

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