Oh Sunghee, Ji Hong, Barzman Drew, Lin Ping-I, Hutton John
Department of Computer Science and Statistics, Jeju National University, Jeju Ciy, Jeju Do, South Korea.
Division of Asthma Research, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Clin Transl Med. 2015 Dec;4(1):37. doi: 10.1186/s40169-015-0078-x. Epub 2015 Dec 14.
High-throughput technologies, ranging from microarrays to NexGen sequencing of RNA and genomic DNA, have opened new avenues for exploration of the pathobiology of human disease. Comparisons of the architecture of the genome, identification of mutated or modified sequences, and pre-and post- transcriptional regulation of gene expression as disease specific biomarkers are revolutionizing our understanding of the causes of disease and are guiding the development of new therapies. There is enormous heterogeneity in types of genomic variation that occur in human disease. Some are inherited, while others are the result of new somatic or germline mutations or errors in chromosomal replication. In this review, we provide examples of changes that occur in the human genome in two of the most common chronic pediatric disorders, autism and asthma. The incidence and economic burden of both of these disorders are increasing worldwide. Genomic variations have the potential to serve as biomarkers for personalization of therapy and prediction of outcomes.
从微阵列到RNA和基因组DNA的新一代测序等高通量技术,为探索人类疾病的病理生物学开辟了新途径。比较基因组结构、鉴定突变或修饰序列以及将基因表达的转录前和转录后调控作为疾病特异性生物标志物,正在彻底改变我们对疾病病因的理解,并指导新疗法的开发。人类疾病中发生的基因组变异类型存在巨大的异质性。有些是遗传的,而其他则是新的体细胞或生殖系突变或染色体复制错误的结果。在本综述中,我们提供了人类基因组在两种最常见的儿童慢性疾病——自闭症和哮喘中发生变化的例子。这两种疾病在全球范围内的发病率和经济负担都在增加。基因组变异有可能作为个性化治疗和预测结果的生物标志物。