PAX9基因上新近发现的一个单核苷酸多态性位点的SNP分析  

Analysis of the novel SNP spot in PAX9

作　　者：袁林天[1] 王小竞[1] 罗亚宁[1] 王庆昱[1] 杨富生[1] 文玲英[1] 

机构地区：[1]第四军医大学口腔医学院,陕西西安710032

出　　处：《牙体牙髓牙周病学杂志》2009年第6期332-337,共6页Chinese Journal of Conservative Dentistry

摘　　要：目的:研究位于PAX9基因外显子3的第89位点上的SNP与多数牙先天缺失的相关性。方法:分别从11名多数牙先天缺失病人,5名少数牙先天缺失病人和38名正常对照者的静脉血样品中提取DNA。采用TaqMan-MGB探针技术对该SNP位点进行单核苷酸多态性研究,利用软件对实验结果进行SNP分型,并行统计分析。结果:突变为纯合子C/C的绝大多数表现为先天缺牙(多数牙先天缺失5例,少数牙先天缺失2例,正常1例)。但31例杂合子中只有7例表现为先天缺牙(多数牙先天缺失6例,少数牙先天缺失1例)。13例野生型纯合子只有2例表现为少数牙先天缺失,11例完全正常。统计结果表明该位点与多数牙先天缺失相关(P<0.001)。结论:多数牙先天缺失可能与PAX9基因外显子3的第89位点上的SNP有关。AIM： To study the relations between the SNPs of PAX9 gene and oligodontia. METHODS ： Extracted DNA were obtained from venous blood sample of 11 oligodontia patients, 5 hypodontia patients and 38 healthy controls. The TaqMan -MGB technology was used to study the single nucleotide poly -morphism （SNP） of this spot. The result was typed with analytic software. RESULTS： Homozygous mutation （C/C） can display oligodontia（ 5/8 ） and hypodontia（2/8）. But just only 7 of 31 heterozygous mutations display congenital missing teeth. 2 of 13 wild type homozygous shows hypodontia, and the rest is healthy. The statistical analysis shows that there is a relationship between oligodontia and this SNP （ P 〈 0. 001 ）. CONCLUSION： Oligodontia is related to this SNP, which is the located at 89th site of exon 3 of Pax9 gene.

关 键 词：多数牙先天缺失 PAX9 突变 SNP分析 

分 类 号：R780.2[医药卫生—口腔医学]