Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis

Am J Hum Genet. 1975 Jul;27(4):521-7.

Abstract

A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases were detected. The ascertainment of the probands was through multiple incomplete selection (pi = .55 +/- .07). The data are consistent with the hypothesis of an extremely rare autosomal recessive gene as the etiological factor in acheiropodia. Prevalence is estimated as 29 +/- 4, which is the same as the number of high risk cases; gene frequency equals .0009 +/- .0005, and the incidence at birth is 4 times 10(-6) by the indirect method or 7 times 10(-6) by the direct method. The frequency of heterozygotes at birth is assumed to be 0.18% (450 times the frequency of affected). Population size is approximately 10 million, and the number of founders on a unique-mutation hypothesis is estimated as about 500. All these estimates are first approximations and must be accepted with caution.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple*
  • Brazil
  • Chromosome Aberrations / epidemiology*
  • Chromosome Disorders
  • Female
  • Foot Deformities, Congenital*
  • Forearm / abnormalities*
  • Gene Frequency
  • Genes, Recessive
  • Hand Deformities, Congenital*
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Pedigree