Introduction to the Molecular Biology of the Cell

摘要: Outstanding technological advances over the past decade have allowed comparison of human individual genomes by analyzing tens thousands single-letter variations, termed single-nucleotide polymorphisms (SNPs). In addition to SNPs, another type structural genetic variations was discovered in 2004: large chromosomal regions ranging from hundreds kilobases (kb) length were deleted, duplicated, or inverted. These large-scale called copy-number (CNVs), are less common than but they occupy up 13% genome. Moreover, variable number tandem repeats (VNTRs), such as microsatellites (also known short [STRs]), minisatellites, and satellites, been used map disease genes within families using a linkage approach. For last two decades, great progress has made identifying specific gene mutations that result monogenic disease, caused defects single gene. Examples diseases include cystic fibrosis, Huntington’s various cardiovascular disorders (CVDs), atherosclerosis, hypertrophic dilated cardiomyopathies, familial forms hypertension, long QT syndrome, anomalies heart vessels. However, disorders—called complex polygenic diseases—are several genes. Multiple loci interact with each other variety environmental factors produce highly heterogeneous phenotypes. The field further revolutionized development novel powerful tool—genome-wide association studies (GWAS)—that allows scanning genomic variants individuals identify associations between diseases. advancements uncovered previously unsuspected underlie risk coronary artery 2 diabetes, stroke. Another breakthrough technology, next generation sequencing (NGS), enables whole-genome sequencing. This technique relies on massively parallelized millions DNA fragments genome combined unique imaging data analysis. NGS successfully applied cause genetically CVDs, syndrome cardiomyopathy. All these new will be examined this chapter.