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Updated: Aug 21, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis
Ernest Beutler1, Lisa Beutler, Pauline L Lee
1Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu
Abstract:
It has been claimed that a noncoding mitochondrial polymorphism at nt 16189 is correlated with the penetrance of the homozygous state for the C282Y mutation of the HFE gene. We have genotyped homozygotes for the C282Y mutation and find no relationship between the ferritin levels and the inheritance of the mitochondrial polymorphism. Indeed, the small difference found is in the opposite direction of that reported previously.
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