Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Croatia.
Psychiatr Danub. 2009 Dec;21(4):562-9.
Variation in the human genome may explain genetic contributions to complex traits and common diseases.
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. Other sources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).
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.
人类基因组的变异可能解释了遗传对复杂特征和常见疾病的贡献。
直到最近，人们还认为单核苷酸多态性是个体间遗传变异最普遍的形式。然而，结构基因组重排，如缺失、重复和倒位，导致基因拷贝数的变化，对基因组多样性的贡献更大。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）。
基因组的动态变化，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，都可能影响基因表达的调控，并可能导致复杂表型的多样性。
