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Screening of MDR1 Gene Polymorphisms in Non Tribal Population of Kerala Pooja Gupta MSc Project Thesis Internal Guide: Mrs K.Narayani, SRM Arts and Science College, Chennai External Guide: Dr.Moinak Banerjee, Rajiv Gandhi Centre for Biotechnology, Trivandrum
Epilepsy is the most prevalent chronic neurological disorder, characterized by recurrent unprovoked seizure affecting at least 50 million people worldwide.
In many patients with epilepsy, seizures are well-controlled with currently available anti-epileptic drugs. But a substantial proportion (36%) of epilepsy patients do not respond to any of two to three first line AEDs .
Individual patients with similar epilepsy syndromes who are taking similar, or even the same, doses of medication can have vastly different responses.
Increased expression or function of multidrug transporter proteins decreases the effective concentration of AEDs at their targets.
Several genes encoding transmembrane proteins that function as drug efflux pumps have been characterised.
Superfamily of adenosine triphosphate-binding cassette (ABC) proteins.
A large number of human genes belonging to this superfamilyhave been identified, which have been systematically classified into seven subfamilies [ABCA, ABCB, ABCC, ABCD, ABCE ABCF and ABCG]. ATP-driven pumps
Linkage Disequilibrium Analysis 1- In07+139C/T 2- Ex 2677G/T 3- Ex 3435C/T In07+139C/T was found to be in strong linkage disequilibrium with Ex 2677G/T(D’=0.649,r²=0.387) but not in significant LD with Ex 3435C/T (D’=0.393,r²=0.12)
Genetic association studies have seen to be non replicated among different population due to different reasons, including population stratification.
By studying the frequency distribution in different caste groups of Kerala, it can be concluded that there is no population stratification among the Kerala population and it can be considered to be a homogenous population with no striking allelic differences even among the different ethnic groups .