A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia
10.3321/j.issn:1002-0098.2008.03.009
- VernacularTitle:中国一少牙畸形家系MSX1基因新突变
- Author:
Wu-Li LI
1
;
Juan-Juan CUI
;
Qiao-Yun FANG
;
Ling-Xuan MEI
Author Information
1. 安徽医科大学口腔医学院
- Keywords:
Tooth abnormality;
Tooth loss;
Mutation;
MSX1 gene
- From:
Chinese Journal of Stomatology
2008;43(3):157-159
- CountryChina
- Language:Chinese
-
Abstract:
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.
