CAJ | 학술논문

目的检测MSX-1基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点在单纯性散在性先天性缺失牙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缺失牙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198例先天性缺失牙患者(病例组:包括非下颌前牙缺失组95例和下颌前牙缺失组103例)和207名健康人(对照组)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.结果病例组rs3821949位点A等位基因频率(43.2%)显著高于对照组(31.4%),病例组rs3821949位点AA基因型频率(14.7%)显著高于对照组(12.6%),差异均有统计学意义(P值分别为0.008和0.030).SNP位点rs12532与单纯性散在性先天性缺失牙无相关性.单倍型分析可见4种单倍型,其中非下颌前牙缺失组的GA单倍型分布频率(27.9%)比对照组低(37.0%,P=0.03,OR:0.51).结论 MSX-1基因编码区SNP位点rs3821949与单纯性散在性先天性缺失牙有明显的相关性,有A等位基因的人群发生先天性缺失牙的危险性相对高.两个SNP位点所构成的GA单倍型可能与导致非下颌前牙先天性缺失的易感基因相连锁.
목적 검측MSX-1기인단핵감산다태성(single nucleotide polymorphism,SNP)위점재단순성산재성선천성결실아환자화건강인군중적분포정황,위심조단순성산재성선천성결실아적역감인소전정기출.방법 응용취합매련반응-한제성편단장도다태성검측198례선천성결실아환자(병례조:포괄비하합전아결실조95례화하합전아결실조103례)화207명건강인(대조조)2개SNP위점(rs3821949화rs12532)적기인형;잡방검험분석량조SNP위점등위기인빈솔화기인형빈솔;용Phase연건구건단배형,병분석병례조여대조조단배형빈솔적차이.결과 병례조rs3821949위점A등위기인빈솔(43.2%)현저고우대조조(31.4%),병례조rs3821949위점AA기인형빈솔(14.7%)현저고우대조조(12.6%),차이균유통계학의의(P치분별위0.008화0.030).SNP위점rs12532여단순성산재성선천성결실아무상관성.단배형분석가견4충단배형,기중비하합전아결실조적GA단배형분포빈솔(27.9%)비대조조저(37.0%,P=0.03,OR:0.51).결론 MSX-1기인편마구SNP위점rs3821949여단순성산재성선천성결실아유명현적상관성,유A등위기인적인군발생선천성결실아적위험성상대고.량개SNP위점소구성적GA단배형가능여도치비하합전아선천성결실적역감기인상련쇄.
Objective To study the relationships between single nuchotide polymorphisms (SNP) of gene rash homebox-1(MSX-1)(rs3821949,rs12532)and sporadic tooth agenesis by filtering the susceptibility genes in a Jiangsu province population.Methods DNA samples were extracted from 198 patients with sporadic tooth agenesis and 207 control subjects.Two MSX-1 gene polymorphisms were genotypod using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.The association between the genetic polymorphism and risk of sporadic tooth agenesis wag estimated by χ2 and logistic regression.The Phase wag used to determine the Hardy-Weinberg equilibrium and haplotype association.Results In the population,the allele frequency and genotype rates of the SNP rs3821949 were significant different between the patients with sporadic tooth agenesis and normal controls:the A allele frequency in the patients (43.2%) was significantly higher than that in the normal controls (31.4%,P=0.008),and the AA genotype rate ofthe patients (14.7%) was significantly higher than that of the controls (12.6%,P=0.030).However,There were no significant diffeFences in the allele frequency and genotype rates of the SNP rs12532 between the patients with sporadic tooth agenesis and normal control s.Similar results were obtained between the mandibular ineisor agenesis cases and controls.The haplotype frequencies of GA(27.9%)were significantly lower in non.mandibular incisor agenesis cases group than that in the control group(37.0%,P=0.03,OR=0.51).Conclusions The results show that SNP rs3821949,which is located at 5'near region of the MSX-1 gene,is likely to have an influence on the transcriptional activity of this gene and be associated with sporadic tooth agenesis.The haplotypes constructed with these 2 SNP sites may be linked with the susceptibility gene of non-mandibular incisor agenesis.