K. Suzuki et al., LINKAGE DISEQUILIBRIUM MAPPING OF THE GENE FOR MARGARITA ISLAND ECTODERMAL DYSPLASIA (ED4) TO 11Q23, American journal of human genetics, 63(4), 1998, pp. 1102-1107
Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive
disorder characterized by unusual facies, dental anomalies, hypotricho
sis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and
cleft lip/cleft palate. We have used an affected-only DNA-pooling stra
tegy to carry out linkage disequilibrium mapping of the ED4 gene to 11
q23. Haplotype analysis of four complex Margarita Island ED4 families
localized the ED4 gene to an similar to 1-2-Mb interval spanned by jus
t two YACs.