An amelogenin gene defect associated with human X-linked amelogenesis imperfecta

作者：Collier PM; Sauk JJ; Rosenbloom J; Yuan ZA; Gibson CW

来源：Archives of Oral Biology, 1997, 42(3): 235-242.

DOI：10.1016/S0003-9969(96)00099-4

• amelogenin
• amelogenesis imperfecta
• enamel
• gene mutation

Dental enamel is a product of ameloblast cells, which secrete a mineralizing organic matrix, composed primarily of amelogenin proteins. The amelogenins are thought to be crucial for development of normal, highly mineralized enamel. The X-chromosomal amelogenin gene is a candidate gene for those cases of amelogenesis imperfecta, resulting in defective enamel, in which inheritance is X-linked. In this report, a kindred is described that has a C to A mutation resulting in a pro to thr change in exon 6 of the X-chromosomal amelogenin gene in three affected individuals, a change not found in unaffected members of the kindred. The proline that is changed by the mutation is conserved in amelogenin genes from all species examined to date.

• 出版日期1997-3