A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia

Barbara Foglieni, Silvia Galbiati, Maurizio Ferrari, Laura Cremonesi

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Title of host publicationMethods in Molecular Biology
PublisherHumana Press
Pages169-182
Number of pages14
Volume444
ISBN (Print)9781588298034
DOIs
Publication statusPublished - 2008

Publication series

NameMethods in Molecular Biology
Volume444
ISSN (Print)10643745

Fingerprint

Thalassemia
Prenatal Diagnosis
Mutation
Globins
DNA Probes
Sickle Cell Anemia
Quality Control
Single Nucleotide Polymorphism
Complementary DNA
Fluorescence
Genome
Technology
DNA
Population
Genes

Keywords

  • Microarray
  • Microelectronics
  • Mutation detection
  • Prenatal diagnosis
  • β-thalassemia

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

Foglieni, B., Galbiati, S., Ferrari, M., & Cremonesi, L. (2008). A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia. In Methods in Molecular Biology (Vol. 444, pp. 169-182). (Methods in Molecular Biology; Vol. 444). Humana Press. https://doi.org/10.1007/978-1-59745-66-9_13

A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia. / Foglieni, Barbara; Galbiati, Silvia; Ferrari, Maurizio; Cremonesi, Laura.

Methods in Molecular Biology. Vol. 444 Humana Press, 2008. p. 169-182 (Methods in Molecular Biology; Vol. 444).

Research output: Chapter in Book/Report/Conference proceedingChapter

Foglieni, B, Galbiati, S, Ferrari, M & Cremonesi, L 2008, A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia. in Methods in Molecular Biology. vol. 444, Methods in Molecular Biology, vol. 444, Humana Press, pp. 169-182. https://doi.org/10.1007/978-1-59745-66-9_13
Foglieni B, Galbiati S, Ferrari M, Cremonesi L. A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia. In Methods in Molecular Biology. Vol. 444. Humana Press. 2008. p. 169-182. (Methods in Molecular Biology). https://doi.org/10.1007/978-1-59745-66-9_13
Foglieni, Barbara ; Galbiati, Silvia ; Ferrari, Maurizio ; Cremonesi, Laura. / A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia. Methods in Molecular Biology. Vol. 444 Humana Press, 2008. pp. 169-182 (Methods in Molecular Biology).
@inbook{5d60fe33fbb9441bba4ec49e174c0767,
title = "A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia",
abstract = "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.",
keywords = "Microarray, Microelectronics, Mutation detection, Prenatal diagnosis, β-thalassemia",
author = "Barbara Foglieni and Silvia Galbiati and Maurizio Ferrari and Laura Cremonesi",
year = "2008",
doi = "10.1007/978-1-59745-66-9_13",
language = "English",
isbn = "9781588298034",
volume = "444",
series = "Methods in Molecular Biology",
publisher = "Humana Press",
pages = "169--182",
booktitle = "Methods in Molecular Biology",

}

TY - CHAP

T1 - A fast microelectronic array for screening and prenatal diagnosis of β-thalassemia

AU - Foglieni, Barbara

AU - Galbiati, Silvia

AU - Ferrari, Maurizio

AU - Cremonesi, Laura

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

KW - Microarray

KW - Microelectronics

KW - Mutation detection

KW - Prenatal diagnosis

KW - β-thalassemia

UR - http://www.scopus.com/inward/record.url?scp=84934442035&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84934442035&partnerID=8YFLogxK

U2 - 10.1007/978-1-59745-66-9_13

DO - 10.1007/978-1-59745-66-9_13

M3 - Chapter

SN - 9781588298034

VL - 444

T3 - Methods in Molecular Biology

SP - 169

EP - 182

BT - Methods in Molecular Biology

PB - Humana Press

ER -