Genetical evaluation of the molar-incisor hypomienralization

Abstract

This study, divided into 2 parts, will investigate the molecular genetics of the Molar-Incisor Hypomineralization pacients. The first part of the study will be evaluatedpossible polymorphisms in candidate genes related to the maturation phase ofamelogenesis (AMELX, AMBN, AMTN, ENAM, MMP20, KLK4, TUFT1, FAM83H,DLX3, DSPP, BMP2, BMP4, BMP7). Oral mucosa cells will be collected from 142probands and their relatives for DNA extraction and genotyping of 64 SNPs (SingleNucleotide Polimorphisms) of candidate genes. Polymorphisms will be investigated byRT-PCR using genotyping system TaqMan® OpenArray" (Applied Biossystems). Thedata from genotyping and SNPs allele frequencies calculation will be performed byJINGLEFIX programs. Mendelian inconsistencies will be evaluated by the softwarePEDCHECK. The Hardy-Weinberg equilibrium (HWE) and the degree of linkagedisequilibrium between the SNPs will be evaluated by the program HAPLOVIEW. Thegenetic association based on families will be performed using transmission method ofLinkage Disequilibrium by UNPHASED program, The results will be corrected formultiple statistical tests using the Bonferroni correction. The second part of the studywill assess the penetration pattern of the MIH, by means of phenotypic data obtainedfrom the same sample. The segregation analysis will be performed using SEGREGsoftware from the SAGE program package. (AU)