Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1.
作者： R. Braunger , H. Kling , W. Krone , M. Schmid , J. Olert
DOI: 10.1007/BF00295809
关键词: Specific activity 、 Radial immunodiffusion 、 Gene dosage 、 Enzyme 、 Acid phosphatase 、 Immunoprecipitation 、 Fumarase 、 Biology 、 Molecular biology 、 Glutamate dehydrogenase 、 Biochemistry
摘要: A strain of fibroblasts partially trisomic for the larger part 1q (Norwood and Hoehn, 1974) contains about 1.5 times as much fumarate hydratase (FH) various control-strains. This gene dosage effect was ascertained by (1) comparative measurements specific activity; (2) relating activity FH to that reference enzymes, not influenced chromosomal anomaly; (3) immunoprecipitation methods, using a rabbit antiserum against pig heart which cross-reacts with human enzyme. Among others, this can be demonstrated numerically following parameters: Ratio average in control strains: 1.53. Corresponding ratio after dividing enzymes; acid phosphatase: 1.58, glutamate dehydrogenase: Average areas obtained upon radial immunodiffusion according Mancini et al. (1965): 1.56.
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