R
rossum
Guest
Might I refer Dr Giertych to the paper “AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.” by Gualandri et al in Am J Hum Genet. 1985 November; 37(6): 1083–1097. PMCID: PMC1684746. To quote from the abstract:The complete population of the small village was sampled, and, by the use of an analytical isoelectric focusing technique for the detection of the mutant, a total of 33 living carriers, ranging in age from 2 to 81 yrs, were identified. Analysis of the genealogic tree of the complete family groups showed that the apoprotein (apo) AIMilano is transmitted as an autosomal dominant trait, all carriers coming from a single mating couple, living in the eighteenth century.Students will never hear Dr. Giertych’s rebuttal to Rossum’s claims [or others] which I post here:
I am not a medical man, so the details of the manner in which cholesterol kills are too far from my speciality to comment. But I have a question. On what basis do the discoverers of this variant claim that it is a mutation? Are the parents of the people with this variant devoid of it? There is variation in nature, lots of it. An unknown so far variant was found. So what? We keep on finding new species all the time and variants within species. Is lack of this variant ‘evidence’ for a negative [or positive] mutation? This did not come from research on induced mutations. Induced mutations are negative or neutral. No positive ones were found. I stand by my statement. Maciej Giertych I added the phrase [or positive] in brackets.
The carriers of this mutation all trace back to a single 18th century couple, which is where this mutation appears to have originated.
Dr Giertych may also want to refer to the evidence supporting my other example of a beneficial mutation, the HbC mutation: “Haemoglobin C protects against clinical Plasmodium falciparum malaria.” Modiano et al Nature. 2001 Nov 15;414(6861):305-8. PMID: 11713529
rossum