Investigation of the cause of the hereditary amelogenesis imperfectaand planning of the genetic diagnosis.

我们对7个已证实的无淀粉性发育候选基因和2个疑似候选基因进行了核苷酸突变分析，包括编码外显子、相邻内含子和启动子区域序列。在12株中发现了突变。除了导致ENAM基因从Pro到Leu的氨基酸替换（P724L）突变外，未发现致病突变，因为其中一些是同义突变，其他是先前报道的多态性非同义突变。ENAM基因的P724L突变可能是一个新的候选基因，有必要对其进行详细的研究。

We performed nucleotide mutation analyses covering the coding exons, adjoining intron and the promoter region sequences for the seven proven amelogenesis imperfacta candidate genes and for two suspected candidate genes. Mut ations were identified in twelve. Except for the mutation that causes the amino acid substitution from Pro to Leu (P724L) in the ENAM gene, no disease-causing mutations were found because some of them were synonymous mutation and the others were non -synonymous mutations previously reported as polymorphisms. The P724L mutation in the ENAM gene may be a new candidate and it is necessary to investigate details.