Abstract
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.
Get full access to this article
View all access options for this article.