遗传性牙釉质发育不全相关基因及突变的研究进展

导出

摘要牙釉质结构异常所导致的一组遗传性疾病,在不涉及全身系统疾病时称之为遗传性牙釉质发育不全（amelogenesis imperfecta,AI）。AI具有明显的临床表型和遗传异质性。形成AI的病因涉及多个候选基因,其发病机制目前尚未明确。

作者杨丕波丁玉梅杨艳飞程鹏杨佳韩传火

机构地区华中科技大学同济医学院附属协和医院

出处《现代口腔医学杂志》 CAS CSCD 2013年第4期236-238,共3页 Journal of Modern Stomatology

基金国家青年科学基金项目资助(81100738)

关键词遗传性牙釉质发育不全相关基因突变全身系统疾病遗传性疾病遗传异质性结构异常临床表型

参考文献20

1seowwk Enamel, hypoplasis in the primary dentition: areview. ASDC J Dent child, 1991, 58(6): 441.
2Hallett KB, Radford D J, Scow WK. Oral health of children with congental cardiac diseases; a controlled study. Pediatr Dent, 1992, 14(4): 224.
3Silberman SL, Trubman A, Duncan WK. Etalrevalence of primary canine hypoplasia of the dibular teeth. Pediatr dent, 1991, 13(6): 356.
4oilier PM, shuk J J, Rosenbloom SJ, et al. An amelogenin gene defect associaled with huam X-linked amelo nesis imperfect. Arch Oral boil, 1997, 42(3): 235.
5Witkop Jr CJ, Sauk Jr JJ. Heritable defects of enamel. In " Oral Facial Genetics" , Stewart RE, Prescott GH eds, CV Mosby Co, St Ls, pp. 1976, 151-226.
6Kim JW, Simmer JP, Hu YY, et al. Amelogenin p. MIT and p. W4S mutations underlying hypoplasticX -linked amelogenesisimperfecta. J Dent Res, 2004, 83: 378-383.
7Witkop Jr CJ. Amelogenesisimperfecta, dentinogenesisimperfecta and dentin dysplasia revisited: problems inclassifieation. J Oral Pathol, 1989, 17: 547-553.
8Nusier M, Yassin O, Hart TC, et al. Phenotypic diversity and revision of the nomenclature forautosomal recessive amelogenesisimperfeeta. Oral SurgOral Med Oral Pathol Oral RadiolEndod, 2004, 97: 220-230.
9Backman B, Holmgren G. Amelogenesisimperfecta: agenetic study. Hum Hered, 1988, 38: 189-206.
10CC, Hart TC, Dupont BR, et al. Cloning human enamelinc DNA, chromosomal localization, and analysis of expression during tooth development. JDent Res, 2000, 79: 912-919.

现代口腔医学杂志

2013年第4期

内容加载中请稍等...