Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype
Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype
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DOI：
10.1101/gr.5320706
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发表时间：
2006-08-01
期刊：
影响因子：
7
通讯作者：
Ewens, Warren J.
中科院分区：
文献类型：
--
作者：
Cheung, Vivian G.;Ewens, Warren J.
常染色体隐性遗传病是那些需要两个等位基因都发生突变才能表现出这种疾病的疾病。虽然大多数隐性疾病很少见，但隐性突变的杂合子携带者相当常见。在这项研究中，我们发现奈梅根断裂综合征(NBS)携带者具有不同于非携带者的基因表达表型，也不同于类似综合征的携带者--共济失调毛细血管扩张症(AT)。我们发现了520个差异表达水平显著的基因(P
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 significantly ( P