K. Forsman et al., LOCALIZATION OF A GENE FOR AUTOSOMAL-DOMINANT AMELOGENESIS IMPERFECTA(ADAI) TO CHROMOSOME 4Q, Human molecular genetics, 3(9), 1994, pp. 1621-1625
Amelogenesis imperfecta (Al), is an inherited odontological disease wh
ich affects the formation of enamel. We report a linkage analysis stud
y performed on three Swedish families, where the affected members had
an autosomal dominant variant of Al (ADAl) clinically characterized as
local hypoplastic. Significant linkage to microsatellite markers on c
hromosome 4q were obtained. Recombinations localized the ADAl locus to
a chromosome region which contains both a locus for the dental disord
er dentinogenesis imperfecta and the albumin gene. Serum albumin has b
een suggested to play a role in enamel formation, and the albumin gene
is therefore a candidate gene for this genetic disease.