Linkage Analysis of Class III Phenotype and Human Chromosome 1

Conference Paper

2014

Published in: https://www.researchgate.net/profile/James_Hartsfield/publications?sorting=newe…

Hartsfield, N. Hawley, Loulwah Alothman, Nandita Mukhopadhyay, S.M. ZETTLER, Liliana Otero, Ricardo Cruz, S. OLIVERIA, M. GOVIL, Lorri A Morford, ames Kennedy . 2014

Objective: Genetic markers were genotyped spanning the 1p22.1-22.2 region, within the Erythrocyte Membrane Protein Band 4.1 (EPB4.1) gene at 1p36 and within the Matrillin-1 (MATN1)gene to examine their potential genetic linkage to the Class III phenotype in two South American family-based cohorts. All three tested loci have previously been implicated in Class III dentofacial deformities. Method: Forty-one families (1,306 individuals) from Brazil and Colombia participated in this study after providing formal informed consent. DNA was isolated from blood, buccal swabs or saliva of 247 of these individuals, 160 of whom were affected by Class III. In subjects providing DNA, the Class III phenotype was defined using Cephalometric measurements for ANB, SNA, SNB; an edge to edge overbite and/or anterior crossbite. Class III was determined for individuals in the pedigrees not providing DNA using a combination of cephalometrics, visual examination, models and/or photographs. Nine Single Nucleotide Polymorphisms (SNPs) were analyzed using a Taqman®-based genotyping on a Roche LightCycler480®. Results: Statistical analysis of genetic markers is currently underway. We anticipate the results should provide information regarding the loci linked to the Class III phenotype or eliminate potential areas of linkage from consideration. Conclusions: If positive linkage is discovered at any of the studied loci, it will indicate a common genetic factor between Asian and South American peoples

• Conference Location: Charlotte, N.C., USA
• Conference Name: AADR Annual Meeting & Exhibition 2014