Rapid Screening of Multiple β-Globin Gene Mutations by Real-Time PCR on the LightCycler: Application to Carrier Screening and Prenatal Diagnosis of Thalassemia Syndromes | Zendy

Christina Vrettou | Zendy; Joanne TraegerSynodinos | Zendy; Maria Tzetis | Zendy; George Malamis | Zendy; Emmanuel Kanavakis | Zendy

Open Access

Rapid Screening of Multiple β-Globin Gene Mutations by Real-Time PCR on the LightCycler: Application to Carrier Screening and Prenatal Diagnosis of Thalassemia Syndromes

Author(s) -

Christina Vrettou,

Joanne TraegerSynodinos,

Maria Tzetis,

George Malamis,

Emmanuel Kanavakis

Publication year - 2003

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/49.5.769

Subject(s) - genotype , population , biology , beta thalassemia , thalassemia , mutation , allele , genetics , heterozygote advantage , prenatal diagnosis , gene , medicine , fetus , pregnancy , environmental health

Hemoglobinopathies are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples.

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