Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q.
Amelogenesis imperfecta (AI), is an inherited odontological disease which affects the formation of enamel. We report a linkage analysis study performed on three Swedish families, where the affected members had an autosomal dominant variant of AI (ADAI) clinically characterized as local hypoplastic. Significant linkage to microsatellite markers on chromosome 4q were obtained. Recombinations localized the ADAI locus to a chromosome region which contains both a locus for the dental disorder dentinogenesis imperfecta and the albumin gene. Serum albumin has been suggested to play a role in enamel formation, and the albumin gene is therefore a candidate gene for this genetic disease.
Department of Clinical Genetics, University Hospital, Umeå, Sweden.
K
K
Forsman
L
L
Lind
B
B
Bäckman
E
E
Westermark
G
G
Holmgren
D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004276:DNA, Satellite / Q000235:genetics; D003744:Dental Enamel Hypoplasia / Q000235:genetics / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic; D013548:Sweden
D004276:DNA, Satellite; D005819:Genetic Markers