MICROARRAY MEETING 2002: NEW DEVELOPMENTS IN MUTATION DETECTION AND GENE EXPRESSION
Segrate, MI (Italy), April 12, 2002 

Minerva Biotecnologica 2002 December;14(3-4):259-63

Copyright © 2003 EDIZIONI MINERVA MEDICA

language: English

Investigation of a subset of human polymorphisms by ligase detection reaction and universal array

Consolandi C. ¹, Bordoni R. ², Castiglioni B. ³, Frosini A. ¹, Mezzelani A. ², Rizzi E. ², Battaglia C. ¹, Pera C. ⁴, Ferrara G. B. ⁵, Zatta P. ², Zambenedetti P. ⁶, Rossi Bernardi L. ¹, De Bellis G. ²

¹ Department of Biomedical Sciences and Technologies, University of Milan, Milan, Italy; ² Institute of Biomedical Technologies, National Council for Researches, Milan, Italy; ³ Institute of Agriculture Biology and Biotechnologies; ⁴ Advanced Biotechnology Center, National Cancer Institute, Genoa, Italy; ⁵ Department of Oncology, Biology and Genetics, University of Genoa, Genoa, Italy; ⁶ Encephalon Bank, General Hospital, Dolo-Venice, Italy

We present our results in the identification of human polymorphisms within the 2nd exon of the HLA-A region, in the exon 4 of apolipoprotein E and in the exon 15 of the transferrin gene. Allele specific detection was performed by PCR followed by ligase detection reaction (LDR) in combination with a universal array, a powerful method for high throughput DNA sequence analysis. This work confirmed the results previously obtained by sequence or enzymatic analysis thus demonstrating the feasibility of genotyping studies by LDR using a universal DNA array.