Genetic analysis of familial non-syndromic primary failure of eruption.
Genetic analysis of familial non-syndromic primary failure of eruption.
复制标题
家族性非综合征性原发性萌芽失败的遗传分析。
DOI：
10.1111/j.1601-6343.2009.01440.x
复制
发表时间：
2009
影响因子：
3.1
通讯作者：
Zhou,J
中科院分区：
文献类型：
--
作者：
Frazier-Bowers,SA;Simmons,D;Koehler,K;Zhou,J
结构化摘要作者-Frazier‐Bowers SA，Simmons D，Koehler K，Zhou J目的-虽然一些萌出障碍作为医学综合征的一部分发生，但原发性萌出失败（PFE）-定义为继发性牙齿萌出的局部失败-存在而不涉及全身。 近年来的研究表明，遗传因素在PFE的发病机制中起重要作用。我们人类遗传研究的目的是调查PFE的遗传贡献。材料和方法-研究了四个候选基因（POSTN、RUNX 2、AMELX和AMBN），因为它们与牙齿萌出的关系或相互之间的推定关系。 根据PFE的临床诊断确定家系和个体。建立家系，通过检查分析，确定4个家系的遗传方式。对无关的受影响个体和未受影响个体的候选基因进行直接测序。用500个微卫星标记进行全基因组扫描，然后进行连锁分析的一个family.Results-家系分析表明，一个常染色体显性遗传模式，完全显性和可变的表达。 序列分析显示POSTN基因中有两个非功能性多态性，其余候选基因中没有其他序列变异。一个家庭的基因分型和连锁分析产生了一个LOD得分为1.51标记D13 S272，D15 S118和D17 S831分别在染色体13，15和17.Conclusions-虽然LOD得分没有显着的连锁证据，目前的家系和新的SNP芯片技术的扩展有很大的希望为PFE的致病位点的鉴定。
Structured AbstractAuthors –Frazier‐Bowers SA, Simmons D, Koehler K, Zhou JObjectives –While some eruption disorders occur as part of a medical syndrome, primary failure of eruption (PFE) – defined as a localized failure of secondary tooth eruption – exists without systemic involvement. Recent studies support that heredity may play an important role in the pathogenesis of PFE. The objective of our human genetic study is to investigate the genetic contribution to PFE.Materials and Methods –Four candidate genesPOSTN,RUNX2,AMELX, andAMBN) were investigated because of their relationship to tooth eruption or putative relationship to each other. Families and individuals were ascertained based on the clinical diagnosis of PFE. Pedigrees were constructed and analyzed by inspection to determine the mode of inheritance in four families. The candidate genes were directly sequenced for both unrelated affected individuals and unaffected individuals. A genome wide scan using 500 microsatellite markers followed by linkage analysis was carried out for one family.Results –Pedigree analysis of families suggests an autosomal dominant inheritance pattern with complete penetrance and variable expressivity. Sequence analysis revealed two non‐functional polymorphisms in thePOSTNgene and no other sequence variations in the remaining candidate genes. Genotyping and linkage analysis of one family yielded a LOD score of 1.51 for markers D13S272; D15S118 and D17S831 on chromosomes 13, 15 and 17 respectively.Conclusions –While LOD scores were not significant evidence of linkage, extension of current pedigrees and novel SNP chip technology holds great promise for identification of a causative locus for PFE.