Characterization of rare mutations present in beta globin gene of Sri Lankan beta Thalassemic patients to develop more efficacious DNA screening method

BIOL 25

Ranil S. Dassanayake, rsdassan@webmail.cmb.ac.lk, Department of Chemistry, Department of Chemistry,University of Colombo, Kumaratunga Munidasa Mawathe, Colombo-03, Colombo, Sri Lanka and Kohila Mahadevan, kohilamahadevan@yahoo.co.uk, Department of Chemistry, Institute of Biochemistry Molecular Biology and Biotechnology and Department of Chemistry,University of Colombo, Kumaratunga Munidasa Mawathe, Colombo-03, Colombo, Sri Lanka.
Beta thalassemia is a genetically inherited disorder that involves the diminished synthesis of beta globin chains, coupled with unimpaired synthesis of alpha chain. It is caused by variety of molecular defects.In general, specific beta thalassemic mutations are strongly associated with particular ethnic groups.

Beta thalassemic patients who were undergoing blood transfusion from several districts were chosen to study the mutations of beta thalassemia. A panel of allele specific primers based on known mutations was developed and the presence of mutation was investigated. To identify the unknown mutations, Single stranded Conformational Polymorphism (SSCP) was developed. This analysis was restricted to the hot spot region (21-501bp) of the beta globin gene as most of the known beta globin mutations were revealed to occur in this region. The DNA samples that showed prominent additional banding pattern in SSCP were sequenced and revealed the presence of mutation. Finally SSCP protocol developed in this study is a good method to unravel the presence of mutation in hot spot region of beta globin and combination of SSCP and allele specific PCR is an ideal method for presymptomatic and parental diagnosis.

 

Frontiers in Chemical Biology
5:00 PM-7:00 PM, Sunday, August 19, 2007 BCEC -- Exhibit Hall - B2, Poster

Division of Biological Chemistry

The 234th ACS National Meeting, Boston, MA, August 19-23, 2007