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先天性前磨牙缺失MSX-1基因多態性的病例對照研究
來源: | 作者: | 發布時間:2014-4-15 15:40:42

先天性前磨牙缺失MSX-1基因多態性的病例對照研究
孫雯1,王華2
基金項目:高等學校博士學科點專項科研基金-新教師類(20123234120007);國家自然科學基金(81200755);江蘇省自然科學基金(BK2012440) 作者簡介:孫雯(1983年出生),女,講師,主要研究方向:分子生物學 通信聯系人:王華(1982年出生),男,醫師,主要研究方向:分子生物學.

(1. 南京醫科大學基礎醫學院 人體解剖教研室,南京 210029; 5 2. 南京醫科大學口腔醫學院 口腔醫學研究所,南京 210029)
摘要:目的 檢測MSX-1基因單核苷酸多態性(SNP)位點在單純性散在性先天性前磨牙缺失患者和健康人群中的分布情況,為尋找單純性散在性先天性前磨牙缺失的易感因素奠定基礎。方法 應用聚合酶鏈反應-限制性片段長度多態性檢測前磨牙缺失組(41例)和對照組(207例)2個SNP位點(rs3821949和rs12532)的基因型;卡方檢驗分析兩組SNP位點等位基因頻率和基因型頻率;用Phase軟件構建單倍型,并分析病例組與對照組單倍型頻率的差異。結果 散在性先天性前磨牙缺失組和對照組,SNP位點rs3821949、rs12532等位基因頻率和基因型頻率無統計學差異。單倍型分析可見4種單倍型,單倍型分析前磨牙缺失組單倍型分布頻率與對照組相比差異無統計學意義(P>0.05) 。
結論 MSX-1基因SNP位點rs3821949、rs12532與單純性散在性先天性缺失前磨牙無相關性。
關鍵詞:多態性, 單核苷酸;病例對照研究;先天缺牙; MSX-1
中圖分類號: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

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