基于家系的关联研究分析约旦阿拉伯人群中配对盒基因 9 多态性与钉形牙的关系。

Family-based association study of genetic analysis of paired box gene 9 polymorphisms in the peg-shaped teeth in the Jordanian Arab population.

机构信息

Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.

Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.

出版信息

Arch Oral Biol. 2021 Jan;121:104966. doi: 10.1016/j.archoralbio.2020.104966. Epub 2020 Nov 6.

DOI:10.1016/j.archoralbio.2020.104966

PMID:33197803

Abstract

OBJECTIVE

The aim of this study is to genotype thirteen Single Nucleotide Polymorphisms (SNPs) within the paired box gene 9 (PAX9) in 36 Jordanian Arab families with peg-shaped teeth, and also to investigate the association between the PAX9 gene and peg-shaped teeth disorder.

METHODS

Genomic DNA samples were extracted from families according to distinguished processes. Then, DNA was amplified by polymerase chain reaction technique (PCR) using specified primers for the exons of the PAX9 gene. In addition, single nucleotide polymorphisms analysis was conducted using the DNA sequencing genotyping method to identify specific single nucleotide polymorphisms in the PAX9 gene associated with peg-shaped teeth.

RESULTS

Thirteen single nucleotide polymorphisms in the PAX9 gene (Chromosome 14q13.3) were used; seven of them (rs104894467, rs104894469, rs28933373, rs28933970, rs28933971, rs28933972, and rs7143727) were non-polymorphic, and the other six were polymorphic (rs2073244, rs2073246, rs2295222, rs4904155, rs4904210, and rs12881240). Both rs12881240 and rs2295222 SNPs showed significant association with peg-shaped teeth disorder (P < 0.05). Moreover, the haplotype genetic analysis revealed that there is a genetic association with peg-shaped teeth disorder susceptibility (P < 0.05) in the Jordanian families of Arab descent.

CONCLUSION

Our findings exhibited significant variations compared to the data recorded from other countries.

摘要

目的

本研究旨在对 36 个约旦阿拉伯家庭的 13 个单核苷酸多态性（SNP）进行配对盒基因 9（PAX9）基因分型，并探讨 PAX9 基因与钉状牙畸形的关系。

方法

根据不同的程序从家庭中提取基因组 DNA 样本。然后，使用特定的 PAX9 基因外显子引物通过聚合酶链反应（PCR）技术扩增 DNA。此外，还通过 DNA 测序基因分型方法进行单核苷酸多态性分析，以鉴定与钉状牙相关的 PAX9 基因特定单核苷酸多态性。

结果

使用了 PAX9 基因（染色体 14q13.3）中的 13 个单核苷酸多态性，其中 7 个（rs104894467、rs104894469、rs28933373、rs28933970、rs28933971、rs28933972 和 rs7143727）是非多态性的，其余 6 个是多态性的（rs2073244、rs2073246、rs2295222、rs4904155、rs4904210 和 rs12881240）。rs12881240 和 rs2295222 SNP 均与钉状牙畸形显著相关（P < 0.05）。此外，单体遗传分析显示，约旦阿拉伯血统的家庭与钉状牙畸形易感性存在遗传关联（P < 0.05）。