Molecular Basis of beta-Thalassemia in Karnataka, India

作者：Kulkarni Gururaj D; Kulkarni Suyamindra S; Kadakol Gurushantappa S; Kulkarni Bhushan B; Kyamangoudar Prakashgouda H; Lakkakula Bhaskar V K S; Thangaraj Kumarasamy; Shepur Tipperudra A; Kulkarni Muralidhar L; Gail Pramod B^*

来源：Genetic Testing and Molecular Biomarkers, 2012, 16(2): 138-141.

DOI：10.1089/gtmb.2011.0035

In beta-thalassemia, point mutations in the beta-globin gene are largely responsible for either decreased or no beta-globin synthesis. The beta-globin gene has three exons and two introns. The molecular characterization of beta-thalassemia is absolutely necessary for carrier screening, for genetic counseling, and to offer prenatal diagnosis. The objective of the present study was to identify the rare mutations in beta-globin gene of beta-thalassemia patients. We have sequenced the entire beta-globin gene in 36 clinically identified thalassemia patients from the Karnataka region using polymerase chain reaction and sequencing. Our analysis revealed 11 beta-thalassemia variants. The most common being IVSII-16 G > C, IVSI-5G > C, IVSII-74 T > G, codon 3 (T > C), and Poly A site (T > C). In addition, we have also documented a novel deletion at codon 6 (-CT) (HBB:c.16delCT). These data are useful in future molecular screening of the population for implementing a thalassemia prevention and control program. Further it is found that family studies and comprehensive hematological analyses would provide useful insights for accurate molecular diagnosis of thalassemia phenotype and offers an interesting subject for further investigations in the Indian populations.

• 出版日期2012-2
• 单位河北医科大学