{"title":"Msx1 Gene Variant - its Association in Isolated Hypodontia: A Case Control Genetic study!!!","authors":"Naveen Admala Reddy, Gopinath Adusumilli, Raghu Devanna, Rohra G Mayur, Saravanan Pichai, Sharmila Arujnan","doi":"10.4103/0971-6866.124376","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Non-syndromic tooth agenesis is a congenital anomaly with significant medical, psychological, and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes.</p><p><strong>Aim of the study: </strong>The aim of this study was to test whether MSX1 671 T > C gene variant was involved in etiology of non-syndromic tooth agenesis in Raichur patients.</p><p><strong>Materials and methods: </strong>Blood samples were collected with informed consent from 50 subjects having non-syndromic tooth agenesis and 50 controls. Genomic deoxyribonucleic acid (DNA) was extracted from the blood samples, polymerase chain reaction (PCR) was performed, and restriction fragment length polymorphism (RFLP) was performed for digestion products that were evaluated.</p><p><strong>Results: </strong>The results showed positive correlation between MSX1671 T > C gene variant and non-syndromic tooth agenesis in Raichur patients.</p><p><strong>Conclusion: </strong>MSX1 671 T > C gene variant may be a good screening marker for non-syndromic tooth agenesis in Raichur patients.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"19 4","pages":"459-64"},"PeriodicalIF":0.0000,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/0d/IJHG-19-459.PMC3897143.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian journal of human genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/0971-6866.124376","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: Non-syndromic tooth agenesis is a congenital anomaly with significant medical, psychological, and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes.
Aim of the study: The aim of this study was to test whether MSX1 671 T > C gene variant was involved in etiology of non-syndromic tooth agenesis in Raichur patients.
Materials and methods: Blood samples were collected with informed consent from 50 subjects having non-syndromic tooth agenesis and 50 controls. Genomic deoxyribonucleic acid (DNA) was extracted from the blood samples, polymerase chain reaction (PCR) was performed, and restriction fragment length polymorphism (RFLP) was performed for digestion products that were evaluated.
Results: The results showed positive correlation between MSX1671 T > C gene variant and non-syndromic tooth agenesis in Raichur patients.
Conclusion: MSX1 671 T > C gene variant may be a good screening marker for non-syndromic tooth agenesis in Raichur patients.
介绍:非综合征性牙齿缺失是一种先天性异常,对医学、心理和社会都有重大影响。有足够的证据表明,可以通过候选基因来确定该病症的基因位点:本研究的目的是检测 MSX1 671 T > C 基因变异是否与 Raichur 患者非综合征性牙齿缺失的病因有关:在知情同意的情况下,采集了 50 名非综合征性牙齿缺失患者和 50 名对照组患者的血样。从血样中提取基因组脱氧核糖核酸(DNA),进行聚合酶链反应(PCR),并对消化产物进行限制性片段长度多态性(RFLP)评估:结果显示,MSX1671 T > C基因变异与Raichur患者的非综合征性牙齿缺失呈正相关:结论:MSX1 671 T > C 基因变异可能是 Raichur 患者非综合征性牙齿缺失的良好筛查标志物。