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NADH dehydrogenase in cystic fibrosis
Author(s) -
SanguinettiBriceno Nelson R.,
Brock David J. H.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01844.x
Subject(s) - cystic fibrosis , heterozygote advantage , dehydrogenase , nadh dehydrogenase , genotype , cell , microbiology and biotechnology , white (mutation) , biology , biochemistry , enzyme , chemistry , genetics , mitochondrial dna , gene
It has been claimed that the pH profile of mitochondrial NADH dehydrogenase in cultured skin fibroblasts can be used to distinguish cystic fibrosis homozygotes, heterozygotes and normal controls. This phenomenon has been examined in more readily accessible white blood cell preparations. The relative changes of activity of white cell NADH dehydrogenase in phosphate buffer at pH 8.0,8.3 and 8.6 were too small and too random to be useful in identifying the genotype of the donor.