Volume 3, number 2
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Beta Thalassaemia Mutation In Population Of Bhopal, Central India

C. B. S. Dangi1, N. C. Sharma1 and B. S. Dangi2

1Department of Genetics, Barkatullah University, Bhopal (India) 2Department of Biochemistry, RKDF Dental College & Research Centre, Bhopal (India)

ABSTRACT: Thalassaemia is a major haemoglobinopathy of wide occurrence in the Indian sub-continent. It is distributed to different degrees in different sub-populations. The treatment of this disorder is quite expensive and counseling seems to be the only way for controlling it. Genetic analysis for Beta-thalassaemia blood disorder is detected by ARMS(Amplification Refractory Mutation System) tecnique. A total number of 43 cases obtain from OPD of Gandhi Medical College & Delta Pathology Bhopal were tested for this disorder. Out of seven common Beta thal mutation (D.J. Weatherall & J.B. Clegg), IVS1 nt 5 (G®C), IVS1nt 1(G®T), 619 bp deletion, Cap+1(A®C), -88 C®T,Fr 8-9(+G), Fr 41-42(-4bp) 39.52%, 16.27%, 18.59%, 6.97%, 0%, 0%, 0% respectively found in population of Bhopal. Early detection of thalassaemia is therefore important not only from treatment point of view, but also for the prevention by genetic counseling.

KEYWORDS: Beta-thalassaemia; Central India; Mutation; PCR; Genetic Counseling; Prenatal Diagosis

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Dangi C. B. S, Sharma N. C, Dangi B. S. Beta Thalassaemia Mutation In Population Of Bhopal, Central India. Biosci Biotechnol Res Asia 2005;3(2)
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Dangi C. B. S, Sharma N. C, Dangi B. S. Beta Thalassaemia Mutation In Population Of Bhopal, Central India. Biosci Biotechnol Res Asia 2005;3(2). Available from: https://www.biotech-asia.org/?p=4389

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