中国一少牙畸形家系MSX1基因新突变

目的 研究一个中国少牙畸形家系MSX1基因的突变情况.方法 收集先证者和部分家系成员的外周血标本,采用聚合酶链式反应(PCR)结合DNA直接双向测序的方法,检测了该家系中7例患者及7名表型正常者和100名无亲缘关系健康个体的MSX1基因突变.结果 所有患者的MSX1基因上均存在剪切突变(IVS1-2A＞G),该突变在家系正常个体及100名健康对照个体中均未发现.结论 在MSX1基因上发现的IVS1-2A＞G为一个新的剪切突变,它可能是造成该家系先天性缺牙的致病突变.

A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia

OBJECTIVE: To detect the MSX1 gene mutation in a Chinese family with oligodontia. METHODS: Blood samples were obtained from seven affected and seven unaffected individuals in the pedigree. All exons and flanking intronic boundaries of the MSX1 gene were amplified with polymerase chain reaction technique and then directly sequenced. The website of bioinformatics was used to predict the effect of the mutation on the function. RESULTS: A splicing mutation (IVS1-2A > G) was found at position -2 near the 3' end of the IVS1 of MSX1, which made a change of the intron 1 splice acceptor site. None of the mutation was found in normal individuals of the family and in 100 unrelated healthy matched control individuals. CONCLUSIONS: IVS1-2A > G was a novel splicing mutation identified in the MSX-1 gene and it might be responsible for nonsyndromic oligodontia in this family.