作　　者： ; ;

机构地区： 南方医科大学基础医学院

出　　处： 《中华医学遗传学杂志》 2018年第4期511-514,共4页

摘　　要： 目的对1个遗传性牙本质发育不全家系进行临床表型分析和牙本质涎磷蛋白（dentin sialophosphoprotein，DSPP）基因突变检测。方法对家系成员进行全身基本情况及口腔专科检查，拍摄口内照、牙片及全景片；采集外周静脉血并提取DNA，用PCR扩增DSPP基因的启动子及外显子，之后采用Sanger测序进行突变筛查，随后用PolyPhen-2和SIFT软件进行突变有害性预测，同时用Swiss-Port软件预测DSPP蛋白的三级结构。结果患者DSPP基因第2外显子存在C．50C〉T（P．P17L）杂合错义突变，其父亲也有此杂合突变，正常人群筛查未发现有突变者；该突变位于蛋白的高度保守区，有害性预测结果显示为有害，导致蛋白三级结构发生改变。结论DSPP基因突变是导致该家系发病的分子基础，这一结果拓展了DSPP基因的突变谱，同时为该遗传性牙本质发育不全Ⅱ型家系的遗传咨询和产前诊断提供了理论依据。 Objective To analyze the clinical phenotype of a Chinese pedigree affected with hereditary dentinogenesis imperfecta and mutation of dentin sialophosphoprotein （DSPP） gene. Methods Affected members underwent intraoral photography, dental film and panoramic radiography. Genomic DNA was extracted from peripheral venous blood samples. Coding regions of the DSPP gene were subjected to PCR amplification and Sanger sequencing. Functional effect of the mutation was predicted with SIFT and PolyPhen-2. The tertiary structure of wild type and mutant proteins were predicted by Swiss-Port. Results A heterozygous c. 50C〉T （p. P17L） mutation was identified in exon 2 of the DSPP gene in the proband and her father. The same mutation was not found among 200 unrelated healthy controls. The Pro-17 residues and its surrounding positions in DSPP are highly conserved across various species. The mutation was predicted to be damaging to the structure of DSPP protein. Conclusion The c. 50C〉T （p. P17L） mutation of the DSPP gene probably underlies the disease in this pedigree. Above finding has expanded the spectrum of DSPP gene mutations and provided a basis for genetic counseling and prenatal diagnosis for this family.

关 键 词： 牙本质发育不全 牙本质涎磷蛋白基因 突变

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