A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population].

L P Nazarenko, E A Sazhenova, S A Nazarenko, E S Banshchikova

Institute of Medical Genetics, Russian Academy of Sciences, Tomsk, 634050 Russia.

Genetika 2003 Jun

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In the patients with enzymopenic hereditary methemoglobinemia type I, a disease widely distributed on the territory of Yakutia, a search for the mutations in exons 3 and 4 of the DIA1 gene encoding NADH-cytochrome b5 reductase was carried out. It was shown that Yakut patients have none of three missence mutations, Arg57Gln, Leu72Pro, and Val105Met, described in case of this disease in the neighboring populations, Chinese and Japanese, inhabiting the territories south of Yakutia.

Citation

L P Nazarenko, E A Sazhenova, S A Nazarenko, E S Banshchikova. A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population]. Genetika. 2003 Jun;39(6):858-62