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HIV-1 protecting CCR5-Delta32 allele in medieval Poland.

机译:在中世纪波兰,HIV-1保护性CCR5-Delta32等位基因。

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摘要

CCR5-Delta32 is the mutation in the chemokine receptor CCR5 that gives its homozygous carriers nearly complete protections from HIV-1 infection. Restricted almost exclusively to Europe, the mutation is thought to have originated in the continent and risen in frequency to the present-day value of approximately 10% due to a selective advantage it gave its carriers. The mutation bearing allele was initially calculated to be approximately 1000 years old and pandemic diseases, such as Bubonic Plague or smallpox were postulated to have selected it. However, new reports appear, that question these hypotheses. Data from ancient DNA (aDNA) studies prove the mutation to be much older, as suggested by calculations based on newer genetic maps. In order to investigate if the plagues of the last millennium selected the allele, and add to the discussion on CCR5-Delta32 origin and age, we searched for the mutation in aDNA isolated from individuals whose skeletal remains were collected at archaeological sites in Poland, dated back to 11-14th centuries. The calculated mean frequency of the allele in medieval Poland (5.06% as compared to contemporary 10.26%), implies its longer than previously believed presence in European populations, and suggests that historic pandemics had little effect on its present-day frequency.
机译:CCR5-Delta32是趋化因子受体CCR5中的突变,可使其纯合子携带者几乎完全免受HIV-1感染。该突变几乎仅限于欧洲,由于其赋予其携带者的选择性优势,该突变被认为起源于该大陆,并且频率增加到目前的大约10%。最初计算出携带突变的等位基因大约有1000年的历史,并假设已选择流行病,例如Bubonic Plague或天花。但是,出现了新的报告,质疑了这些假设。正如基于较新的遗传图谱的计算所表明的那样,来自古代DNA(aDNA)研究的数据证明该突变的年龄要大得多。为了调查上个千年的瘟疫是否选择了等位基因,并增加了关于CCR5-Delta32起源和年龄的讨论,我们搜索了一个分离自人类的DNA的突变,该个体的骨骼残骸是在波兰的考古遗址中收集的。回到11-14世纪。计算得出的中世纪波兰等位基因的平均频率(5.06%,而当代为10.26%),意味着其在欧洲人口中的存在时间比以前认为的要长,并且表明历史性大流行对其当前频率的影响很小。

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