Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.
Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.
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DOI：
10.1186/1746-160x-3-8
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发表时间：
2007-01-31
影响因子：
3
通讯作者：
Line, Sergio R P
中科院分区：
文献类型：
--
作者：
Santos, Maria C L G;Hart, P Suzanne;Line, Sergio R P
釉质生成不全（AI）是一组遗传异质性疾病，会导致牙釉质发育缺陷。几种牙釉质蛋白和蛋白酶的突变与人工智能有关。本研究的目的是评估两个巴西 AI 家族的 6 个主要候选基因位点的病因学证据。从家族成员获得基因组DNA，对ENAM、AMBN、AMELX、MMP20、KLK4和Amelotin基因的所有外显子和外显子-内含子边界进行扩增和测序。还评估了每个家族与已知含有牙釉质发育重要基因的染色体区域的联系。本研究表明，这两个家族中的 AI 不是由任何已知的 AI 位点或文献中提出的任何主要候选基因引起的。这些发现表明非综合征性人工智能存在广泛的遗传异质性。
Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.