Volume : III, Issue : X, October - 2014

SPECTRUM OF BETA THALASSEMIA MUTATIONS DETECTION IN SOUTH KARNATAKA POPULATION BY USING ARMS–PCR

Harisha S A, Poojitha K, Devaki R N, M N Suma, Devananda D, Vinod Kumar H R

Abstract :

Beta–thalassemia is a highly prevalent autosomal recessive genetic disorder characterized by the reduced or absent expression of the beta globin gene, leading to an imbalance of alpha and beta globin chains in haemoglobin. Out of 300 different mutations causing beta–thalassemia, IVS1–1, IVS1–5, Codon 41/42, Codon 8/9 are most common in South Karnataka regions, the study was done to analyze the chromosomal background and to detect mutations of beta thalassemia by using ARMS–PCR assay. A total number of 30 diagnosed beta thalassemia cases were taken and DNA samples were used for amplification with different pair of allele specific primers having four pair of test primers and one pair of control primers. The obtained PCR products were electrophorized under optimal conditions. The present study suggests that the most commonly mutation was found to be IVSI–5. These data are useful in future molecular screening of the population for implementing a thalassemia prevention and control program. ARMS–PCR technique were found to be a valuable tool for analysis of beta–thalassemia mutations due to accurate, cost effective, simple and rapid screening.

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Article: Download PDF   DOI : 10.36106/ijsr  

Cite This Article:

Harisha S A, Poojitha K, Devaki R N, M N Suma, Devananda D, Vinod Kumar H R SPECTRUM OF BETA THALASSEMIA MUTATIONS DETECTION IN SOUTH KARNATAKA POPULATION BY USING ARMS-PCR International Journal of Scientific Research, Vol : 3, Issue : 10 October 2014

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