An amelogenin gene defect associated with human X-linked amelogenesis imperfecta
An amelogenin gene defect associated with human X-linked amelogenesis imperfecta
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DOI：
10.1016/s0003-9969(96)00099-4
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发表时间：
1997-03-01
影响因子：
3
通讯作者：
Gibson, CW
中科院分区：
文献类型：
--
作者：
Collier, PM;Sauk, JJ;Gibson, CW
牙釉质是成釉细胞的产物，它分泌一种矿化的有机基质，主要由釉原蛋白组成。釉原蛋白被认为对正常、高度矿化的釉质的发育至关重要。X染色体上的釉原蛋白基因是釉质发育不全的候选基因，导致釉质缺陷，其遗传是X连锁的。在这篇报道中，描述了一个家系，该家系具有C到A突变，导致三个受影响个体的X染色体成釉蛋白基因第6外显子的顺向改变，这种改变在该家系的非受累成员中没有发现。到目前为止，所有被检查的物种的釉原蛋白基因中，由突变改变的脯氨酸是保守的。(C)1997年爱思唯尔科学有限公司。
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.