Rapid characterization of b-thalassemia mutations by reverse dot blot and allele-specific pcr analysis | Zendy

Sonja Pavlović | Zendy; Jelena Urosevic | Zendy; Tatjana Djureinovic | Zendy; Dragana Janić | Zendy; Lidija Krivokapic-Dokmanovic | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Rapid characterization of b-thalassemia mutations by reverse dot blot and allele-specific pcr analysis

Author(s) -

Sonja Pavlović,

Jelena Urosevic,

Tatjana Djureinovic,

Dragana Janić,

Lidija Krivokapic-Dokmanovic

Publication year - 2002

Publication title -

jugoslovenska medicinska biohemija

Language(s) - English

Resource type - Journals

eISSN - 1452-8193

pISSN - 0354-3447

DOI - 10.2298/jmh0203283p

Subject(s) - thalassemia , prenatal diagnosis , mutation , allele , southern blot , compound heterozygosity , polymerase chain reaction , genetics , population , microbiology and biotechnology , dot blot , biology , heterozygote advantage , hemoglobinopathy , medicine , gene , immunology , hemolytic anemia , fetus , pregnancy , environmental health

Summary: This paper reports a case of b-thalassaemia major whose molecular diagnosis was achieved by using modern methods of molecular genetics. This example demonstrates the strategy we chose to detect b-thalassaemia mutations in the Republic of Serbia in order to complete molecular screening in our population and to make prenatal diagnosis in pregnancies at risk. The analysis of genomic DNA isolated from the blood of patient affected with thalassaemia major is carried out by the methods: RDB (reverse dot blot) and ARMS (amplification refractory mutation system). It is shown that the patient is a compound heterozygote for two b-thalassaemic mutations: b+IVSI-110 and b+IVSI-6.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research