The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis.
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.
Beutler
Ernest
E
Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu
Beutler
Lisa
L
Lee
Pauline L
PL
Barton
James C
JC
D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006432:Hemochromatosis / Q000097:blood / Q000151:congenital*; D006720:Homozygote; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D014168:Transferrin / Q000032:analysis
D004272:DNA, Mitochondrial; D014168:Transferrin