Detection of eight β-thalassemia mutations using a DNA enzyme immunoassay

A. Colosimo, G. Novelli, A. Cavicchini, B. Dallapiccola

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We describe the use of a polymerase chain reaction-based method followed by a DNA enzyme immunoassay for the simultaneous detection of the eight most common β-thalassemia mutations in the Mediterranean population. The method is specific, sensitive, and easily applicable in routine clinical laboratories for the molecular diagnosis of β-thalassemia patients and at risk couples.

Original languageEnglish
Pages (from-to)136-139
Number of pages4
JournalInternational Journal of Clinical & Laboratory Research
Volume26
Issue number2
DOIs
Publication statusPublished - Jul 1996

Fingerprint

Clinical laboratories
Thalassemia
Polymerase chain reaction
Immunoenzyme Techniques
Mutation
Clinical Laboratory Techniques
DNA
Enzymes
Polymerase Chain Reaction
Population

Keywords

  • β-Thalassemia
  • DNA enzyme immunoassay
  • Polymerase chain reaction
  • Screening

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Detection of eight β-thalassemia mutations using a DNA enzyme immunoassay. / Colosimo, A.; Novelli, G.; Cavicchini, A.; Dallapiccola, B.

In: International Journal of Clinical & Laboratory Research, Vol. 26, No. 2, 07.1996, p. 136-139.

Research output: Contribution to journalArticle

@article{ead1021ae1fd4037b9b71ed11c43d224,
title = "Detection of eight β-thalassemia mutations using a DNA enzyme immunoassay",
abstract = "We describe the use of a polymerase chain reaction-based method followed by a DNA enzyme immunoassay for the simultaneous detection of the eight most common β-thalassemia mutations in the Mediterranean population. The method is specific, sensitive, and easily applicable in routine clinical laboratories for the molecular diagnosis of β-thalassemia patients and at risk couples.",
keywords = "β-Thalassemia, DNA enzyme immunoassay, Polymerase chain reaction, Screening",
author = "A. Colosimo and G. Novelli and A. Cavicchini and B. Dallapiccola",
year = "1996",
month = "7",
doi = "10.1007/BF02592357",
language = "English",
volume = "26",
pages = "136--139",
journal = "Ricerca in Clinica e in Laboratorio",
issn = "0940-5437",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - Detection of eight β-thalassemia mutations using a DNA enzyme immunoassay

AU - Colosimo, A.

AU - Novelli, G.

AU - Cavicchini, A.

AU - Dallapiccola, B.

PY - 1996/7

Y1 - 1996/7

N2 - We describe the use of a polymerase chain reaction-based method followed by a DNA enzyme immunoassay for the simultaneous detection of the eight most common β-thalassemia mutations in the Mediterranean population. The method is specific, sensitive, and easily applicable in routine clinical laboratories for the molecular diagnosis of β-thalassemia patients and at risk couples.

AB - We describe the use of a polymerase chain reaction-based method followed by a DNA enzyme immunoassay for the simultaneous detection of the eight most common β-thalassemia mutations in the Mediterranean population. The method is specific, sensitive, and easily applicable in routine clinical laboratories for the molecular diagnosis of β-thalassemia patients and at risk couples.

KW - β-Thalassemia

KW - DNA enzyme immunoassay

KW - Polymerase chain reaction

KW - Screening

UR - http://www.scopus.com/inward/record.url?scp=0029782553&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029782553&partnerID=8YFLogxK

U2 - 10.1007/BF02592357

DO - 10.1007/BF02592357

M3 - Article

VL - 26

SP - 136

EP - 139

JO - Ricerca in Clinica e in Laboratorio

JF - Ricerca in Clinica e in Laboratorio

SN - 0940-5437

IS - 2

ER -