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|Title:||DNA chip platform: a high-throughput genotyping technology for genetic diagnosis and pharmacogenetic profiling||Authors:||LU YI||Keywords:||beta-thalassemia, childhood ALL, DNA chip, genotyping, polymorphism, pharmacogenetics||Issue Date:||18-Apr-2008||Citation:||LU YI (2008-04-18). DNA chip platform: a high-throughput genotyping technology for genetic diagnosis and pharmacogenetic profiling. ScholarBank@NUS Repository.||Abstract:||Genetic polymorphisms in human genome can not only become the causative factor for a certain inherited disease, but also alter the risk of developing a particular cancer in at risk population, or influence a patient's treatment response in the therapy. Therefore, genotyping assay may help to control such a disease, understand the aetiology of a cancer, and individualize the treatment based on the patient's genetic profile to maximize the therapeutic efficacy. For these purposes, we exploited the advantages of DNA chip technology and developed two chip-based genotyping strategies: the arrayed primer extension (APEX) and single-nucleotide allele-specific primer extension (AsPEX). This thesis will describe our work of using APEX to screen the mutations that may cause beta-thalassemia, and using multiplex AsPEX to detect polymorphisms in eight xenobiotics-metabolizing genes that may have impact on the susceptibility to developing childhood acute lymphoblastic leukemia (ALL) and the risk of relapse in children with ALL.||URI:||http://scholarbank.nus.edu.sg/handle/10635/13203|
|Appears in Collections:||Ph.D Theses (Open)|
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