Forsman K, Lind L, Bäckman B, Westermark E, Holmgren G
Department of Clinical Genetics, University Hospital, Umeå, Sweden.
Hum Mol Genet. 1994 Sep;3(9):1621-5. doi: 10.1093/hmg/3.9.1621.
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.
牙釉质发育不全（AI）是一种遗传性牙科学疾病，会影响牙釉质的形成。我们报告了一项对三个瑞典家庭进行的连锁分析研究，其中受影响的成员患有牙釉质发育不全的常染色体显性变异型（ADAI），临床表现为局部发育不全。获得了与4号染色体q上微卫星标记的显著连锁关系。重组将ADAI基因座定位到一个染色体区域，该区域既包含牙本质发育不全这一牙齿疾病的基因座，也包含白蛋白基因。血清白蛋白被认为在牙釉质形成中起作用，因此白蛋白基因是这种遗传病的一个候选基因。
