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Transcription profiling of human heterozygous carriers of Nijmegen Breakage Syndrome reveals distinct gene expression phenotype.

ABSTRACT: By comparing the expression levels of genes between carriers of Nijmegen Breakage Syndrome and non-carriers, we showed that NBS carriers have a distinct gene expression phenotype. Experiment Overall Design: Gene expression analysis using Affymetrix Human Focus arrays; comparison of expression levels of genes using t-statistic and identification of genes that allow classification of individuals as carriers or non-carriers by linear discriminant analysis.

ORGANISM(S): Homo sapiens

SUBMITTER: Michael Morley

PROVIDER: E-GEOD-3894 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype.

Cheung Vivian G VG Ewens Warren J WJ

Genome research 20060629 8

Autosomal recessive diseases are those that require mutations in both alleles to exhibit the disorder. Although most recessive conditions are rare, heterozygous carriers of recessive mutations are quite common. In this study, we show that carriers of Nijmegen Breakage Syndrome (NBS) have a distinct gene expression phenotype that differs from that of noncarriers and also from that of carriers of a similar syndrome, Ataxia Telangiectasia (AT). We found 520 genes whose expression levels differ sign ...[more]

PMID: 16809669

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Heterozygous carriers of Nijmegen Breakage Syndrome Have a Distinct Gene Expression Phenotype.

Project description:By comparing the expression levels of genes between carriers of Nijmegen Breakage Syndrome and non-carriers, we showed that NBS carriers have a distinct gene expression phenotype. Keywords: Cell Line Comparison

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Homo sapiens

Project description:Heterozygous carriers of Nijmegen Breakage Syndrome Have a Distinct Gene Expression Phenotype.

| PRJNA94141 | ENA