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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1975-11-8
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
521-7
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1155460-Abnormalities, Multiple,
pubmed-meshheading:1155460-Brazil,
pubmed-meshheading:1155460-Chromosome Aberrations,
pubmed-meshheading:1155460-Chromosome Disorders,
pubmed-meshheading:1155460-Female,
pubmed-meshheading:1155460-Foot Deformities, Congenital,
pubmed-meshheading:1155460-Forearm,
pubmed-meshheading:1155460-Gene Frequency,
pubmed-meshheading:1155460-Genes, Recessive,
pubmed-meshheading:1155460-Hand Deformities, Congenital,
pubmed-meshheading:1155460-Heterozygote,
pubmed-meshheading:1155460-Homozygote,
pubmed-meshheading:1155460-Humans,
pubmed-meshheading:1155460-Male,
pubmed-meshheading:1155460-Pedigree
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pubmed:year |
1975
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pubmed:articleTitle |
Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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