Anatomy and Cell Biology Department, University of Malta, Msida, Malta.
Int J Immunogenet. 2011 Apr;38(2):139-43. doi: 10.1111/j.1744-313X.2010.00984.x. Epub 2010 Dec 13.
Malta was under Norman rule for over 400 years and has had three major documented plague outbreaks (and a number of minor ones) since the 14th century with death tolls of 5-15% of the population at the time. This makes the Maltese population ideal for testing the hypothesis that the Black Death (particularly that of 1346-52) was responsible for a genetic shift that spread the CCR5-Δ32 allele. By enrolling 300 blood donors to determine the percentage of the Maltese population resistant to HIV-1 (which uses the CCR5-receptor to infect cells), it was established that the CCR5-Δ32 allele frequency is almost zero in third-generation Maltese citizens and sequencing showed that the deletion observed in the region of interest is the 32-base deletion expected. Thus, despite the extensive Norman occupation and the repeated plague cullings, the CCR5-Δ32 allele frequency is extremely low. This provides a basis for the discussion of conflicting hypotheses regarding the possible origin, function and spread of the CCR5-Δ32 deletion.
马耳他曾在诺曼人统治下长达 400 多年，并自 14 世纪以来发生了三次有记录的大瘟疫（还有一些较小的瘟疫），当时的死亡人数占当时人口的 5-15%。这使得马耳他人非常适合验证以下假设：黑死病（尤其是 1346-1352 年的黑死病）导致了一种遗传转变，从而传播了 CCR5-Δ32 等位基因。通过招募 300 名献血者来确定对 HIV-1（利用 CCR5 受体感染细胞）具有抗性的马耳他人群的百分比，确定了第三代马耳他人的 CCR5-Δ32 等位基因频率几乎为零，测序表明在感兴趣的区域观察到的缺失是预期的 32 个碱基缺失。因此，尽管诺曼人长期占领和反复发生鼠疫，但 CCR5-Δ32 等位基因频率非常低。这为讨论有关 CCR5-Δ32 缺失的可能起源、功能和传播的相互矛盾的假设提供了依据。
