Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.

@article{Giroux2007AssessmentOT,
  title={Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.},
  author={Sylvie K Giroux and Ariane Dub{\'e}-Linteau and Guy Cardinal and Yves Labelle and Nathalie Laflamme and Yves Gigu{\`e}re and François Rousseau},
  journal={Clinical genetics},
  year={2007},
  volume={71 6},
  pages={569-75}
}
Inherited deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a severe, sometimes fatal disorder. A single mutation in the MCAD gene, 985A>G, is involved in approximately 90% of cases. To evaluate the relevance of implementing a systematic population-based screening program in the province of Quebec using a biochemical test, we measured the prevalence of this mutation in a set of anonymous newborn samples from the Quebec City area, a region where the majority of its inhabitants are… CONTINUE READING

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