Genetic evidence for the role of loci at 19q13 in cleft lip and palate.

ABSTRACT:

Background

Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences.

Methods

Genotype based linkage disequilibrium analysis was conducted using the family based association test (FBAT) and the likelihood ratio test (LRT). We also carried out direct sequencing of the PVR and PVRL2 candidate genes based on their homology to PVRL1, a gene shown previously to cause Margarita Island clefting. Participants included 434 patients with cleft lip with or without cleft palate or cleft palate only and their mothers from eight countries in South America, 205 nuclear triads (father-mother-affected child) from Iowa, 541 nuclear triads from Denmark, and 1

SUBMITTER: Warrington A 

PROVIDER: S-EPMC2564544 | biostudies-literature | 2006 Jun

REPOSITORIES: biostudies-literature