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

被引:121
作者
Collier, PM
Sauk, JJ
Rosenbloom, J
Yuan, ZA
Gibson, CW
机构
[1] UNIV PENN, SCH DENT MED, DEPT ANAT & HISTOL, PHILADELPHIA, PA 19104 USA
[2] UNIV MARYLAND, SCH DENT, DEPT ORAL PATHOL, BALTIMORE, MD 21201 USA
关键词
amelogenin; amelogenesis imperfecta; enamel; gene mutation;
D O I
10.1016/S0003-9969(96)00099-4
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
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. (C) 1997 Elsevier Science Ltd.
引用
收藏
页码:235 / 242
页数:8
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