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HUMAN GENOME VARIATION IN HEALTH AND IN NEUROPSYCHIATRIC DISORDERS

机译:人类基因组在健康和神经精神疾病中的变化

摘要

Objectives: Variation in the human genome may explain genetic contributions to complex traits and common diseases.Findings: Until recently, single nucleotide polymorphisms were thought to be the most prevalent form of interindividual genetic variation. However, structural genomic rearrangements such as deletions, duplications, and inversions lead to variation in gene copy number and contribute even more to genomic diversity. Othersources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).Conclusions: Genome dynamics, including changes in gene number and position as well as epigenetic modifications of coding and noncoding sequences, can affect regulation of gene expression and may contribute to the variability of complex phenotypes.
机译:目的:人类基因组中的变异可能解释了遗传对复杂性状和常见疾病的贡献。发现:直到最近,单核苷酸多态性仍被认为是个体间遗传变异的最普遍形式。但是,结构基因组重排,如缺失,重复和倒位,会导致基因拷贝数变化,甚至对基因组多样性做出更大贡献。基因组变异的其他来源包括非编码基因,假基因和移动遗传元件(转座子)。结论:基因组动态,包括基因数量和位置的变化以及编码和非编码序列的表观遗传修饰,可影响基因表达的调控并可能有助于复杂表型的变异性。

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