Journal of Prevention and Treatment for Stomatological Diseases ›› 2016, Vol. 24 ›› Issue (12): 706-710.doi: 10.12016/j.issn.2096-1456.2016.12.005

• Cinical Study • Previous Articles     Next Articles

Analysis of AXIN2 gene mutations in a family with isolated oligodontia

Han QIN(),Hong-zhi XU,Yong-qing GONG   

  1. Department of Stomatology, Lianyungang Affiliated Hospital of Xuzhou Medical University, Lianyungang 222002,China
  • Received:2016-02-19 Revised:2016-03-30 Online:2016-12-20 Published:2016-12-20
  • Contact: Han QIN E-mail:qinhan2003@163.com

Abstract:

Objective To investigate the mutational characteristics of AXIN2 gene in a family affected by non-syndromic oligodontia and to provide a molecular basis for studying the pathogenesis of oligodontia. Methods A family of different descents with oligodontia, and some unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from blood samples. Mutation analysis was performed by amplifying AXIN2 exons as well as their exon-intron boundaries and sequencing the products. Results DNA sequencing of AXIN2 gene revealed 3 mutations in the 2 patients with oligodontia: a homozygotic silent mutation c. Of which 1 mutation 365A > G (p.Pro455 = ) was in exon 3, and 2 mutations c.956 + 16A > G(Ⅱ-1: homozygosis; Ⅲ-1: heterozygosis) plus c.1200 + 71A > G (homozygosis) were in intron, which were possibly contributed to the structural and functional changes of proteins. Meanwhile, the heterozygotic mutations (c.1365A > G and c.1200 + 71A > G) were found in proband's mother (Ⅱ-2). Conclusion Our finding suggests the c.956 + 16A > G, c.1365A > G and c.1200 + 71A > G mutations of AXIN2 may be responsible for oligodontia phenotype in this Chinese family, certainly, an understanding of the exact function of AXIN2 in odontogenesis requires further detailed analysis of each stage of this process.

Key words: Oligodontia, AXIN2, Gene polymorphism, Pedigree, Gene mutation

CLC Number: 

  • R781.4

Table 1

AXIN2 primer sequences and annealing temperature"

名称 正向引物 反向引物 大小(bp) 退火温度(℃)
Exon 2 5′-AGAGAGACCACGCCGATTG-3′ 5′-CATGGCCAGCAGTCCTAAC-3′ 1 017 64
Exon 3 5′-CTTTCTGCCCAGGTGAGC-3′ 5′-CCCACCAAACTGATGTCC-3′ 424 61
Exon 4 5′-AAGCCAAGTTTCCATAGATGA-3′ 5′-GTTCTTTTCTCTCCCTTTGCC-3′ 471 62
Exon 5 5′-CGCCTTGCCATCCACTC-3′ 5′-GCACATGCGCACACAGC-3′ 443 64
Exon 6 5′-ATGGGTTGCGTGTGGGT-3′ 5′-GGGCTGGTGACACGAAAG-3′ 883 63
Exon 7 5′-CGCATTACAGGCATTTAGTT-3′ 5′-AAGATGGCAGGAGCAAATAG-3′ 499 62
Exon 8 5′-GACTATTTGCTCCTGCCATC-3′ 5′-GACTTGCCTCACAGATCCTG-3′ 674 62
Exon 9 5′-CAGGGTCTTGGTTGGGTCT-3′ 5′-CAGGACATGGATGGCAACA-3′ 408 64
Exon 10 5′-CATGTGGGGTTGGACTGTG-3′ 5′-CGGCTGCTGCTTCGTTATT-3′ 466 66
Exon 11 5′-AGTCCCAGCTGCCGTCTTA-3′ 5′-CCACTGGCCGATTCTTCC-3′ 431 65

Figure 1

Pedigree of the family"

Figure 2

Dentition photo and panoramic radiograph of the 2 patients"

Figure 3

DNA sequencing of the axis inhibition protein 2 reveals 3 mutations in the 2 patients with oligodontia"

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