Vargas-Alarcón Gilberto, Flores-Domínguez Carmina
Department of Molecular Biology, Instituto Nacional de Cardiologia Ignacio Chavez, Mexico City, Mexico.
Methods Mol Biol. 2013;1048:215-28. doi: 10.1007/978-1-62703-556-9_16.
Life expectancy has always been associated to several determinants, such as environmental and genetic factors. Studies have related human lifespan as being 25-32 % due to genetic polymorphisms between individuals associated to longevity and aging. Nonetheless, no single gene will convey a phenotype like longevity. Aging is a process that occurs from changes in various levels of the cell, from genes to functions. Longevity is the ability to cope and repair the damage that results from these changes. It has been described as the result of an optimal performance of immune system and as an overexpression of anti-inflammatory sequence variants of immune/inflammatory genes.Longevity gene candidates can be separated into the following categories: inflammatory and immune-related, stress response elements, mediators of glucose and lipid metabolism, DNA repair components and cellular proliferation, and DNA haplogroups.Studies have related lifespan with Common Single-Nucleotide Polymorphisms (SNPs); polygenic effects can explain an important part of how genetics influence it. In this chapter we describe how to sequence Class I HLA allele polymorphism, as well as SNP sequencing, two methodologies most frequently used in polymorphism detection.
预期寿命一直与多种决定因素相关，如环境和遗传因素。研究表明，由于个体间与长寿和衰老相关的基因多态性，人类寿命的25%-32%可归因于此。然而，没有单个基因能传达出长寿这样的表型。衰老是一个从细胞的各个层面（从基因到功能）发生变化的过程。长寿是应对和修复这些变化所导致损伤的能力。它被描述为免疫系统最佳功能的结果以及免疫/炎症基因抗炎序列变体的过度表达。长寿基因候选者可分为以下几类：炎症和免疫相关、应激反应元件、葡萄糖和脂质代谢介质、DNA修复成分和细胞增殖以及DNA单倍群。研究已将寿命与常见单核苷酸多态性（SNP）联系起来；多基因效应可以解释遗传学对寿命影响的重要部分。在本章中，我们描述了如何对I类HLA等位基因多态性进行测序，以及SNP测序，这是多态性检测中最常用的两种方法。
