Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics.
Since carriers of the acheiropodia gene cannot be distinguished from noncarriers, parents and normal sibs of affected individuals have been used to estimate the fitness of heterozygotes. No significant difference in biologic fitness (viability and fertility) between normal sibs and the general population could be detected. A comparison between acheiropods and their normal sibs showed the following: (1) a nonsignificant difference in stillbirth rate; (2) a higher mortality rate of acheiropods in the first 5 years of life; (3) a relative viability not larger than .7; (4) a relative fertility no greater than .14, due to "cosmetic effects"; and (5) a fitness of .10 or lower. The total number of acheiropodia genes in Brazil has been calculated as 25,000 in the 1970s. The data are compatible with an extremely low mutation rate and a very stable locus. It is suggested that all Brazilian acheiropods can be traced to a single mutation. A conservative estimate of the number of acheiropods to appear in the future in Brazil is 14,000 with an extinction time of no less than 2,300 generations or almost 70,000 years. A variety of other parameters have been calculated.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001938:Brazil; D005260:Female; D005298:Fertility; D005532:Foot Deformities, Congenital; D005542:Forearm / Q000002:abnormalities*; D005787:Gene Frequency; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009026:Mortality