Molecular Genetics Core Facility

Project Description

The RCMI Molecular Genetics Core Laboratory is located in the Department of Biochemistry on the sixth floor of the UPR Medical Sciences Campus. It was created to support molecular genetics applications in areas of basic and clinical research. The Facility provides research infrastructure and technical support for human genetics projects in the areas of molecular biology and genetics. Several basic and clinical science investigators with overlapping research interests are collaborating in this endeavor. The facility provides services to faculty and graduate students from different departments and schools at the Medical Sciences Campus, as well as to many scientists from other academic institutions in Puerto Rico. This facility contains the necessary instrumentation to perform molecular genetics methodologies such as genotype analysis, DNA sequencing and quantitative PCR analysis. It also provides custom synthesis of molecular biology reagents such as oligonucleotides and peptides. Technical support and consultation are also available through the core facility coordinator, participant faculty, and staff.

Major Instrumentation

In addition, the laboratory is equipped with a Beckman UV spectrophotometer, two tissue culture incubators, two laminar flow hoods, an autoclave , agarose and polyacrylamide gel and blotting systems, microcentrifuges, Ph meter, power supplies, etc. 

Services Provided

• Custom synthesis of oligonucleotides and peptides
  
• Genotyping
  
• Analysis of point mutations in DNA by DHPLC
  
• DNA Sequencing
  
• Nucleic acids purification and analysis
  
• Analysis of RNA, DNA or proteins using the Agilent Bioanalyzer Chips
  
• Analysis of point mutations by ASO hybridization
  
• Two color microarrays
  
• Technical support and consultation in molecular genetics
  
• Specialized seminars in molecular biology and human genetics
  

Research Applications

• Molecular characterization of Hemophilia
  
• Characterization of Hemoglobinopathies
  
• Molecular and cell biology of the cytoskeleton
  
• Molecular and cell biology of cell proliferation and cell cycle control
  
• Molecular biology of parasites
  
• Control of gene expression in eukaryotic organisms
  
• Molecular biology applications in clinical diagnostic procedures
  

• Lilliam Villanueva, M.S.
  e-mail:lvillanueva@rcm.upr.edu
  Molecular Biology Lab
  
  
• Jessicca Renta-Torres
  e-mail:jrenta@rcm.upr.edu
  Human Genetics lab