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

Minerva Biotecnologica 2002 December;14(3-4):241-6

Copyright © 2003 EDIZIONI MINERVA MEDICA

lingua: Inglese

Single nucleotide polymorphism and mutation identification by microelectronic chip technology

Stenirri S. 1, Foglieni B. 1, Manitto M. P. 2, Martina E. 2, Brancato R. 2, Cremonesi L. 1, Ferrari M. 1, 3

1 Unit of Genomics for Diagnosis of Human Pathologies, IRCCS H. San Raffaele, Milan, Italy; 2 Department of Ophthalmology and Visual Sciences, University Hospital San Raffaele, Milan, Italy; 3 Diagnostica e Ricerca, San Raffaele SpA, Milan, Italy


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Back­ground. The ­need of devel­op­ing ­advanced meth­o­dol­o­gies for muta­tion iden­tifi­ca­tion has ­been rais­ing in the ­last few ­years. ­This is prin­ci­pal­ly due to the iden­tifi­ca­tion of an increas­ing num­ber of genet­ic vari­a­tions asso­ciat­ed ­with ­human dis­eas­es. Micro­ar­rays are a mod­ern DNA diag­nos­tic ­tool, allow­ing the rap­id anal­y­sis of a ­large ­cohort of ­patients for a ­huge num­ber of alle­lic var­i­ants.
Meth­ods. In the ­present ­study we ­have ­employed a new micro­elec­tron­ic ­based tech­nol­o­gy: the NMW 1000 Nano­Chip™ Molec­u­lar Biol­o­gy Work­sta­tion (Nano­gen, San Die­go, CA), ­that ­enables the ­active move­ment of ­charged mole­cules to des­ig­nat­ed ­test ­sites. We devel­oped ­assays for the iden­tifi­ca­tion of ­some com­mon Ital­ian muta­tions in the ret­i­na-spe­cif­ic ABC trans­port­er (­ABCA4) ­gene, ­involved in Star­gardt dis­ease. ­Assays ­were val­i­dat­ed by a ret­ro­spec­tive ­study on a ­large num­ber of ­wild ­type and mutat­ed sam­ples.
­Results. Com­par­i­son of the ­results ­obtained ­with the Nano­gen tech­nol­o­gy and ­those ­obtained ­with oth­er meth­ods ­showed a com­plete con­cor­dance.
Con­clu­sions. In our expe­ri­ence, the micro­elec­tron­ic tech­nol­o­gy devel­oped by Nano­gen ­allowed to over­come ­some of the lim­i­ta­tions due to pas­sive hybrid­iza­tion. ­This, cou­pled to the pos­sibil­ity of assem­bling dif­fer­ent com­bi­na­tions of spe­cif­ic ­probes ­onto a micro­chip to per­form cus­to­mized anal­y­ses, ­could ­improve the effi­cien­cy of muta­tion iden­tifi­ca­tion in a varie­ty of genet­ic diag­nos­tic appli­ca­tions.

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