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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

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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