Neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders, is caused by mutations in the NF1 gene. A variety of methods are currently used in clinical settings to define disease-causing mutations. We describe microarray-based combinatorial sequencing-by-hybridization (cSBH), which overcomes some disadvantages associated with other techniques. Sequence readout of 2kb was achieved on a single slide, with detection of base substitutions, insertions and small deletions. In addition, cSBH analysis of the entire NF1 gene demonstrates reproducibility, efficiency and reduced time; therefore, representing an alternative to extensive DNA sequence characterization.

Combinatorial sequencing-by-hybridization: Analysis of the NF1 gene / Annalisa, Schirinzi; Snezana, Drmanac; DALLA PICCOLA, Bruno; Steve, Huang; Kathryn, Scott; A., De Luca; Donald, Swanson; Radoje, Drmanac; Saul, Surrey; Fortina, Paolo. - In: GENETIC TESTING. - ISSN 1090-6576. - STAMPA. - 10:1(2006), pp. 8-17. [10.1089/gte.2006.10.8]

Combinatorial sequencing-by-hybridization: Analysis of the NF1 gene

DALLA PICCOLA, Bruno;FORTINA, PAOLO
2006

Abstract

Neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders, is caused by mutations in the NF1 gene. A variety of methods are currently used in clinical settings to define disease-causing mutations. We describe microarray-based combinatorial sequencing-by-hybridization (cSBH), which overcomes some disadvantages associated with other techniques. Sequence readout of 2kb was achieved on a single slide, with detection of base substitutions, insertions and small deletions. In addition, cSBH analysis of the entire NF1 gene demonstrates reproducibility, efficiency and reduced time; therefore, representing an alternative to extensive DNA sequence characterization.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/361982
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