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

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MetadadosDescriçãoIdioma
Autor(es): dc.creatorFreire-Maia, A.-
Autor(es): dc.creatorFreire-Maia, N.-
Autor(es): dc.creatorMorton, N. E.-
Autor(es): dc.creatorAzevêdo, E. S.-
Autor(es): dc.creatorQuelce-Salgado, A.-
Data de aceite: dc.date.accessioned2025-08-21T18:27:48Z-
Data de disponibilização: dc.date.available2025-08-21T18:27:48Z-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued1975-12-01-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/230780-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/230780-
Descrição: dc.descriptionA 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 x 10 -6 by the indirect method or 7 x 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 at about 500. All these estimates are first approximations and must be accepted with caution.-
Descrição: dc.descriptionDept. Genet., Fac. Ci. Med. Biol., Botucatu-
Formato: dc.format521-527-
Idioma: dc.languageen-
Relação: dc.relationAmerican Journal of Human Genetics-
???dc.source???: dc.sourceScopus-
Título: dc.titleGenetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis-
Tipo de arquivo: dc.typelivro digital-
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