The polymorphisms within the human genome include several functional variants that cause debilitating inherited diseases. An elevated frequency of some of these deleterious mutations can be explained by a beneficial effect that confers a selective advantage owing to disease resistance in carriers of such mutations during an infectious disease outbreak. We here review plausible examples of balanced functional polymorphisms and their roles in the defense against pathogens. The genome organization of the chemokine receptor and HLA gene clusters and their influence on the HIV/AIDS epidemic provides compelling evidence for the interaction of infectious and genetic diseases in recent human history.

中文翻译：

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通过遗传与传染性人类疾病选择的平衡多态性。

人类基因组内的多态性包括几种导致衰弱性遗传疾病的功能性变异。这些有害突变中某些突变的频率升高可以通过有益效果来解释，该有益效果由于在传染病爆发期间此类突变的携带者具有抗病性而赋予选择性优势。我们在这里回顾了平衡的功能多态性及其在防御病原体中的作用的合理实例。趋化因子受体和HLA基因簇的基因组结构及其对HIV / AIDS流行的影响为近代人类历史上传染病和遗传病的相互作用提供了令人信服的证据。