High prevalence of cleft lip among the Bari Indians of western Venezuela.
Cleft lip with or without cleft palate (CL +/- P) is of high prevalence in an isolated, inbred indigenous population of the Venezuelan rain forest: 12 contemporary probands are known in a population of 1200. CL +/- P is familial in this population. One kindred contains four affected siblings and a total of eight probands. The mode of transmission of CL +/- P is under investigation through the collection and biological verification of genealogies and through screening for selected sequence-based polymorphisms. Polymerase chain reaction (PCR) assays were successfully applied to recover DNA from blood dried onto filter paper in the field. Eleven samples from probands and their first-degree relatives have been analyzed for DNA sequence-based polymorphisms for TGF-A and HOX7. No significant linkages for either locus were found. Evaluation of the distribution of probands in four genealogies indicates that CL +/- P could be transmitted as an autosomal recessive trait in this population. We believe this is the first report of this mode of transmission for nonsyndromic CL +/- P.
Ballew
C
C
Center for Clinical Research, Chicago, IL 60607.
Beckerman
S J
SJ
Lizarralde
R
R
D000483:Alleles; D002874:Chromosome Mapping; D002971:Cleft Lip / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D015331:Cohort Studies; D003241:Consanguinity; D005260:Female; D005801:Genes, Homeobox / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D008297:Male; D008393:Marriage; D008875:Middle Aged; D010375:Pedigree; D011110:Polymorphism, Genetic; D015995:Prevalence; D016211:Transforming Growth Factor alpha / Q000235:genetics; D014687:Venezuela / Q000453:epidemiology
D016211:Transforming Growth Factor alpha