Lee Maxwell P
Laboratory of Population Genetics, National Cancer Institute, Bethesda, MD, USA.
Methods Mol Biol. 2005;311:39-47. doi: 10.1385/1-59259-957-5:039.
Human variation is largely caused by deoxyribonucleic acid polymorphism and difference in gene expression. Common disease/common variant hypotheses suggest that quantitative differences among different alleles may be the basis for complex diseases. Quantitative difference in gene expression between alleles may affect most complex diseases. We have developed a gene chip-based method to quantitatively examine allele-specific gene expression of 1063 transcribed single-nucleotide polymorphisms using Affymetrix HuSNP oligo arrays. Among the 602 genes that were heterozygous and expressed in kidney or liver tissues from seven individuals, 326 (54%) showed preferential expression of one allele in at least one individual. The genes that showed allele-specific expression are distributed throughout the genome. We showed that variation of gene expression between alleles is common and that this variation may contribute to human variation. Our studies demonstrate the feasibility to perform genome-wide analysis of allele-specific gene expression.
人类变异主要由脱氧核糖核酸多态性和基因表达差异引起。常见疾病/常见变异假说认为，不同等位基因之间的数量差异可能是复杂疾病的基础。等位基因之间基因表达的数量差异可能影响大多数复杂疾病。我们开发了一种基于基因芯片的方法，使用Affymetrix HuSNP寡核苷酸阵列定量检测1063个转录单核苷酸多态性的等位基因特异性基因表达。在来自7个人的肾脏或肝脏组织中杂合且表达的602个基因中，326个（54%）在至少一个个体中表现出一个等位基因的优先表达。显示等位基因特异性表达的基因分布于整个基因组。我们表明，等位基因之间基因表达的变异很常见，并且这种变异可能导致人类变异。我们的研究证明了对等位基因特异性基因表达进行全基因组分析的可行性。
