Abstract
Background Most current single nucleotide polymorphism (SNP) genotyping methods are still too slow and expensive for routine use in large association studies that requires hundreds or more SNPs in a large number of DNA samples and for diagnostic purpose. Clinical implementation and ultimate use of nucleic acid biomarkers necessitate development of pragmatic detection assays that deliver adequate sensitivities, mutation selectivity and high throughput capabilities in a rapid, robust and cost effective manner. In the present study we have developed a sensitive and cost effective genotyping technique with computer aided tool for allele discrimination and implemented it to genetic epidemiology study.
Highlights
Most current single nucleotide polymorphism (SNP) genotyping methods are still too slow and expensive for routine use in large association studies that requires hundreds or more SNPs in a large number of DNA samples and for diagnostic purpose
Material and methods Modified allele specific oligonucleotide hybridization assay with elimination of DNA isolation step for PCR and novel allele discrimination method was used to screen folate metabolism gene polymorphisms in acute lymphoblastic leukemia patients and normal individuals
The developed visual based allele specific oligonucleotide hybridization assay will be useful in clinical diagnostic system where large scale screening is often necessary without any sophisticated detection systems
Summary
Ravishankara1*, Shreeshakala, S Padmalatha Rai, Kerthana Prasad, C Deepthi, PM Gopinath, K Satyamoorthy. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. 23-25 January 2013
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