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A structural but isoelectrophoretic moderate variation of glucose-6-phosphate dehydrogenase (G6PD) activity is common among Nigerians (a black population exposed to a long-lasting intense Plasmodium falciparum malarial endemia). It had never even been searched for among Caucasoids and Mongoloids. In the present work, we attempted to ascertain whether this polymorphism exists among Caucasoids. With this purpose, two Caucasoid male populations were studied: Sardinians and Romans, who respectively did and did not experience an evolutionarily effective exposure to P. falciparum. The approach adopted here consisted in comparing the variations of G6PD activity observed between brothers who certainly received their Gd gene from the same grandparent (hence Gd genes identical by descent) with those between brothers who received it (in the Roman series) or may have received it (in the Sardinian series) from different grandparents. No evidence for common moderate G6PD activity variations segregating with the Gd gene was found either in Romans or Sardinians, who have both been studied with much larger samples and more sensitive approaches than those which detected such type of polymorphism among Nigerians. The upper 95% confidence limit of such zero estimates for the frequency of the isoelectrophoretic quantitative Gd variant alleles were about 0.04 and 0.025 for Romans and Sardinians, respectively. This is the first example of a genetic region (the Gd gene with its flanking sequences) apparently monomorphic in a major race and with several (four) polymorphic sites in another major race.

A total of 3,285 young males selected at random from the school population of Rome have been administered the Ishihara plates for colour blindness. Those who failed to read all plates correctly were further administered Farnsworth's Panel D-15 and the diagnoses of colour blindness were made by an ophthalmologist and cross checked. A total of 201 subjects were found to be colour-blind, allowing a gene frequency estimate of 0.061 +/- 0.004. This is the first reliable estimate for the Italian population and appears to be lower than for other Caucasoid populations. The gene frequency of colour blindness is known to increase from 0.02-0.04 in 'primitive' populations to 0.07-0.09 in Caucasoid populations, possibly as a result of a selection relaxation.