Biochemical genetics

Especially for this latter class of hydrogenases, great effort has been devoted to the purification and the characterization of the metal centers involved, using biochemical, genetic, spectroscopic (IR, EPR, Mossbauer, MCD, EXAFS, and mass spectrometry), and crystallographic techniques 152, 165, 166). 

Goldie, A.H. and Subden, R.E., The neutral carotenoids of wild-type and mutant strains of Neurospora crassa, Biochem. Genet. 10, 275, 1973. 

Finally, animal, plant and microbial tissues have been shown to contain the iron storage protein ferritin. The animal protein has been extensively studied, but the mechanism of iron binding has not been completely resolved (29). Animal tissues contain, in addition, a type of granule comprised of iron hydroxide, polysaccharide and protein. The latter, called hemosiderin, may represent a depository of excess iron (30). Interestingly, a protein with properties parallel to those of ferritin has been found in a mold. Here the function of the molecule can be examined with the powerful tools of biochemical genetics (31). 

Motulsky A. Drug reactions, enzymes and biochemical genetics. JAMA 1957 165 835-837. 

Motulsky, A.G., "Drug Reactions, Enzymes and Biochemical Genetics," JAMA, 165, 835-837 (1957). 

Harris, H., Human Biochemical Genetics, 3rd ed. Amsterdam Elsevier (1980). 

K5. Kalckar, H. M., Biochemical genetics as illustrated by hereditary galacto-saemia. In Ciba Foundation Symposium on Biochemistry of Human Genetics (G. E. W. Wolstenholme, and C. M. O Connor, eds.), pp. 23-38. Churchill, London, 1959. 

A comprehensive, up-to-date review A Biochemical, Genetic and Physio-pathological Study of Haptoglobin has recently been presented by Jayle and Moretti (J12). Since the present article is concerned mainly with problems of current interest in clinical work and research, the older literature will be dealt with only in brief outline. 

A5. Allison, A. C., Metabolic polymorphisms in mammals and their bearing on problems of biochemical genetics. Am. Naturalist 93, 5 (1959). 

J12. Jayle, M. F., and Moretti, J., A biochemical, genetic and physiopathological study of haptoglobin. Progr. in Hematol. In press. 

As the subject of biochemical genetics has developed, it has become clear that inheritance and mutations govern not only the gross metabolic differences between different species but also intraspecies differences of a lesser magnitude. 

Harry Harris, An Introduction to Human Biochemical Genetics, Cambridge University Press, London, England and New York, N.Y., 1953. 

From the standpoint of biochemical genetics and the genetotrophic principle, however, it seems likely that partial genetic blocks (which impose increased demands) may happen anywhere in the entire metabolic scheme in what may be assumed, without further evidence, to be in a random fashion. If this be the case, any and every nutritional need may be represented among those which are observed to be augmented. 

One of the important questions with respect to mental disease (particularly schizophrenia) is whether or not it has genetic origins. The twin studies made by Kallmann20 indicate that it has. Doubtless the inheritance of susceptibility is complicated because there are probably a number of factors involved, each inherited separately and perhaps counteracting each other. The facts of biochemical genetics... 

Buzzell R, Buttery B, MacTavish D (1987) Biochemical genetics of black pigmentation of soybean seed. The J Hered 78 53-54... 

Many of the larger biochemical genetics laboratories are in academic medical centres and make a significant contribution to research. They have collectively been responsible for much of the progress made in recent years. However, there is always a tension between research, where data need to be accumulated into publishable packets and a degree of secrecy prevails, and clinical care, where results need to reported immediately, perhaps to distant clinicians with their own publication needs. 

The workload is increasing in both volume and scope in all branches of laboratory medicine. In mainstream clinical chemistry, the past 25 years have seen astonishing developments in assay technology and instrumentation assays that were performed manually with a few dozen assays a day can now be accomplished automatically by the thousands. In biochemical genetics (molecular genetics aside), automation has had a less dramatic impact. 

Quality Control and Quality Assurance in the Biochemical Genetic Laboratory... 

---