Clinical and genetic evaluation of a family with isolated oligodontia
10.3969/j.issn.1006-5725.2015.07.023
- VernacularTitle:单纯性多数牙缺失家系的临床检查及基因突变分析
- Author:
Han QIN
;
Lifang MA
;
Hongzhi XU
;
Yongqing GONG
;
Kun XUAN
- Publication Type:Journal Article
- Keywords:
Oligodontia;
MSX1;
PAX9;
Gene polymorphism
- From:
The Journal of Practical Medicine
2015;(7):1117-1120
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To investigate the mutational characteristics of MSX1 and PAX9 genes in a family affected by non-syndromic oligodonti so as to study the pathogenesis of oligodontia from a molecular prospective. Methods A family with oligodontia, but of different descent and unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from the blood samples. Mutation analyses were performed by amplifying MSX1 and PAX9 exons and sequencing the products. Results DNA sequencing revealed a novel missense mutation c.348C>T in a highly conserved homeobox sequence of MSX1 and a known polymorphisms c. 469+35- c.469+45del in exon 1 and in intron in the two patients and in two unrelated healthy controls. But we did not detect any mutation in PAX9. Conclusion Our finding suggests the samesense mutation (c.348C>T) and the polymorphisms (c.469+35- c.469+45del) may be responsible for oligodontia phenotype in this Chinese family.
