Literature DB >> 1163539

Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics.

A Freire-Maia, W H Li, T Maruyama.   

Abstract

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.

Entities:  

Mesh:

Year:  1975        PMID: 1163539      PMCID: PMC1762833     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  8 in total

1.  Total number of individuals affected by deleterious mutant genes in a finite population.

Authors: 
Journal:  Ann Hum Genet       Date:  1975-01       Impact factor: 1.670

2.  ESTIMATION OF PREVALENCE UNDER INCOMPLETE SELECTION.

Authors:  I BARRAI; M P MI; N E MORTON; N YASUDA
Journal:  Am J Hum Genet       Date:  1965-05       Impact factor: 11.025

3.  Inbreeding in Brazil.

Authors:  N FREIRE-MAIA
Journal:  Am J Hum Genet       Date:  1957-12       Impact factor: 11.025

4.  The handless and footless families of Brazil.

Authors:  A Freire-Maia
Journal:  Lancet       Date:  1970-10-03       Impact factor: 79.321

5.  The handless and footless families of Brazil.

Authors:  A Freire-Maia
Journal:  Lancet       Date:  1970-03-07       Impact factor: 79.321

6.  Total number of individuals affected by a single deleterious mutation in a finite population.

Authors:  W H Li; M Nei
Journal:  Am J Hum Genet       Date:  1972-11       Impact factor: 11.025

7.  The average number of generations until extinction of an individual mutant gene in a finite population.

Authors:  M Kimura; T Ota
Journal:  Genetics       Date:  1969-11       Impact factor: 4.562

8.  A radiological and genetic investigation of acheiropody in a kindred including six cases.

Authors:  S P Toledo; P H Saldanha
Journal:  J Genet Hum       Date:  1969-05
  8 in total
  4 in total

1.  Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.

Authors:  P Ianakiev; M J Daly; S P Toledo; M G Cavalcanti; J C Neto; E L Silveira; A Freire-Maia; P Heutink; M W Kilpatrick; P Tsipouras
Journal:  Am J Hum Genet       Date:  2000-11-22       Impact factor: 11.025

2.  Age, area, and acheiropody.

Authors:  N E Morton; C A Barbosa
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

3.  A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.

Authors:  M A Escamilla; M C DeMille; E Benavides; E Roche; L Almasy; S Pittman; J Hauser; D F Lew; N B Freimer; M R Whittle
Journal:  Am J Hum Genet       Date:  2000-04-25       Impact factor: 11.025

4.  The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography.

Authors:  Ismail Temur; Kahraman Ulker; Islim Volkan; Mehmet Karaca; Mustafa Ersoz; Abdulaziz Gul; Esat Adiguzel
Journal:  Am J Case Rep       Date:  2012-06-13
  4 in total

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