13. A Fast Microelectronic Array for Screening and Prenatal Diagnosis of β-Thalassemia
| Abstract |
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The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide
polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then
it is hybridized with fluorescent-tagged DNA probes specific for the mutant and wild-type sequences. The presence or absence
of the mutation is detected by the fluorescence signal. Electronic stringency provides quality control for the hybridization
process and ensures that any bound pairs of DNA are truly complementary; the microchip can be easily customized by the end
user, allowing for assembly of specific probes onto the microchip to perform individualized analyses. Assays for 10 frequent
mutations in the β-globin gene causing β-thalassemia and sickle cell anemia are presented that can be applied, in turn, to
population screening or family study and prenatal diagnosis in single cases.
Affiliation(s): (4) Genomic Unit for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
(5) Diagnostica e Ricerca San Raffaele S.p.A.; and Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy
(6) Diagnostica e Ricerca San Raffaele S.p.A., San Raffaele Scientific Institute, Milan, Italy
(5) Diagnostica e Ricerca San Raffaele S.p.A.; and Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy
(6) Diagnostica e Ricerca San Raffaele S.p.A., San Raffaele Scientific Institute, Milan, Italy
Book Title: Prenatal Diagnosis
Series: Methods in Molecular Biology | Volume: 444 | Pub. Date: May-09-2008 | Page Range: 169-182 | DOI: 10.1007/978-1-59745-066-9_13
Subject: Molecular Medicine
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