Genotyping Errors in Apolipoprotein AV Gene Due to Polymorphism
Author Information
Author(s): Kirsten J Ward, Sian Ellard, Chittaranjan S Yajnik, Timothy M Frayling, Andrew T Hattersley, Prathyusha N Venigalla, Giriraj R Chandak
Primary Institution: Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Hypothesis
Does the -987C>T polymorphism in the ApoAV gene lead to allelic drop-out in genotyping the -1131T>C polymorphism?
Conclusion
The presence of the -987C>T polymorphism can cause allelic drop-out in the widely used MseI RFLP assay for genotyping the -1131T>C polymorphism.
Supporting Evidence
- The study found a 2.9% genotyping error rate between the two methods used.
- Heterozygosity at the -987C>T polymorphism was associated with discordant results in genotyping.
- The -987C>T polymorphism was found to be common in the Asian Indian population.
Takeaway
Sometimes, when scientists try to figure out a gene's makeup, they can make mistakes because of tiny changes in the gene. This study found one such change that can cause problems.
Methodology
Genotyping was performed using an ARMS-PCR based tetra-primer method and quality control was done with MseI RFLP analysis.
Potential Biases
Potential bias due to the focus on specific ethnic groups and the reliance on certain genotyping methods.
Limitations
The study primarily focused on Asian Indian and UK Caucasian populations, which may limit the generalizability of the findings to other ethnic groups.
Participant Demographics
1185 Asian Indians and 173 UK Caucasians.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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