Siniscalco M, Bernini L, Filippi G, Latte B, Meera Khan P, Piomelli S, Rattazzi M
Bull World Health Organ. 1966;34(3):379-93.
The authors report data on the genetic distribution of thalassaemia and of glucose-6-phosphate dehydrogenase deficiency in the populations of certain Sardinian villages, many of which are not only of great antiquity but have maintained isolation for very long periods and therefore possess the following three requirements for suitability for investigation of the possible interrelationships among malaria, thalassaemia and G-6-PD deficiency: a reasonable degree of ethnic homogeneity, availability of reliable demographic data, and availability of malaria-free populations of adequate size and of ethnic background and genetic isolation similar to those of the malarial populations.Investigations including more than 6000 observations in 52 villages demonstrated a positive correlation between the incidences of thalassaemia and G-6-PD deficiency. It is suggested that the genotype that carries thalassaemia and/or the enzyme deficiency may have a high adaptive value in a malarial environment.It is concluded that there is a need further to investigate human genetic structure and the biological fitness of the principal genotype combinations in both existing environments and those that will result from continued cultural evolution.
作者报告了撒丁岛某些村庄人群中地中海贫血和葡萄糖-6-磷酸脱氢酶缺乏症的基因分布数据，其中许多村庄历史悠久，长期保持隔离状态，因此具备以下三个适合研究疟疾、地中海贫血和G-6-PD缺乏症之间可能存在的相互关系的条件：合理程度的种族同质性、可靠人口统计数据的可得性，以及有足够规模、种族背景和基因隔离情况与疟疾流行人群相似的无疟疾人群。对52个村庄进行的包括6000多次观察的调查表明，地中海贫血和G-6-PD缺乏症的发病率之间存在正相关。有人提出，携带地中海贫血和/或酶缺乏症的基因型在疟疾环境中可能具有很高的适应价值。得出的结论是，有必要进一步研究人类基因结构以及在现有环境和因持续文化演变而产生的环境中主要基因型组合的生物学适应性。
