先天性前磨牙缺失MSX-1基因多态性的病例对照研究
孙雯1，王华2
基金项目：高等学校博士学科点专项科研基金-新教师类（20123234120007）；国家自然科学基金（81200755）；江苏省自然科学基金（BK2012440） 作者简介：孙雯（1983年出生），女，讲师，主要研究方向：分子生物学 通信联系人：王华（1982年出生），男，医师，主要研究方向：分子生物学.

（1. 南京医科大学基础医学院 人体解剖教研室，南京 210029； 5 2. 南京医科大学口腔医学院 口腔医学研究所，南京 210029）
摘要：目的 检测MSX-1基因单核苷酸多态性(SNP)位点在单纯性散在性先天性前磨牙缺失患者和健康人群中的分布情况，为寻找单纯性散在性先天性前磨牙缺失的易感因素奠定基础。方法 应用聚合酶链反应-限制性片段长度多态性检测前磨牙缺失组（41例）和对照组（207例）2个SNP位点（rs3821949和rs12532）的基因型；卡方检验分析两组SNP位点等位基因频率和基因型频率；用Phase软件构建单倍型，并分析病例组与对照组单倍型频率的差异。结果 散在性先天性前磨牙缺失组和对照组，SNP位点rs3821949、rs12532等位基因频率和基因型频率无统计学差异。单倍型分析可见4种单倍型，单倍型分析前磨牙缺失组单倍型分布频率与对照组相比差异无统计学意义(P>0.05) 。
结论 MSX-1基因SNP位点rs3821949、rs12532与单纯性散在性先天性缺失前磨牙无相关性。
关键词：多态性， 单核苷酸；病例对照研究；先天缺牙； MSX-1
中图分类号：Q343.1+5

Msh homebox-1 polymorphisms and susceptibility to sporadic premolares agenesis: a case-control study
SUN Wen1, WANG Hua2
(1. Department of Anatomy, Histology and Embryology, Nanjing Medical University, Nanjing 210029; 2. Institute of Stomatology, Nanjing Medical University, Nanjing 210029)
Abstract: Objective To study the relationships between single nucleotide polymorphisms (SNP) of gene MSX-1 (rs3821949， rs12532) and sporadic premolares agenesis by filtering the susceptibility genes in a Jingsu province population.
Methods DNA samples were extracted from 41 patients with sporadic t premolares agenesis and 207 control subjects. Two MSX-1 gene polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The association between the genetic polymorphism and risk of sporadic tooth agenesis was estimated by χ2 and logistic regression. The PHASE was used to determine the Hardy–Weinberg equilibrium and haplotype association.Results In our study population，there were no significant differences in the allele frequency and genotype rates of the SNPs rs3821949 and rs12532 between the patients with sporadic premolares agenesis and normal controls. Haplotype frequencies analysis results showed that there were no significant differences between agenesis cases and controls (P>0.05).
Conclusions Our results show that SNPs rs3821949 and rs12532 were likely not associated with sporadic premolares agenesis.
Key words: Polymorphism， single nucleotide； Case-control studies； Tooth agenesis； MSX-1