Studies are presented on the biochemical genetics of 30 adenine-requiring mutants of the Chinese hamster ovary cell which were induced by mutagenesis and selected by the BrdU-visible light technique. Representative experiments conducted with these mutants include: hybridization with each other; hybridization with normal human cells; nutritional analysis; biochemical analysis with radioactively ...

In a population and family study we have examined the relationship between HLA types, classical congenital adrenal hyperplasia (CAH), and variants of 21 hydroxylase (21 OH) deficiency detected by increased blood levels of 17 hydroxyprogesterone (17 PO) in response to ACTH after overnight suppression with dexamethasone ('short Synacthen test'). In a non-CAH population, 7.7% of subjects were foun...

Tandem mass spectrometry (MS/MS) has become a key technology in the fields of biochemical genetics and newborn screening. The development of electrospray ionisation (ESI) and associated automation of sample handling and data manipulation have allowed the introduction of expanded newborn screening for disorders which feature accumulation of acylcarnitines and certain amino acids in a number of p...

found in secretions and body fluids, and exhibit size heterogeneity upon purification, as discussed above. Based on these observations, it is likely that many glycosyltransferases share a common domain structure with the sialyltransferase. What is the basis for the subcellular localization of the glycosyltransferases? It has been demonstrated that the fi-galactoside a2,6-sialyltransferase is lo...

Tryptophan is the one of the least abundant yet, in terms of energy, one of the most expensive to produce of the standard protein amino acids (Hrazdina and Jensen, 1992). The Iow leve1 of soluble tryptophan present in plants (1 to 15 pM) belies the importance of the amino acid and the pathway that produces it (Gilchrist and Kosuge, 1980). Animals, and some eubacteria, lack the ability to synthe...

In the Arabian Peninsula, high percentages of consanguineous marriages and the tribal nature of marriages have resulted in high incidence of genetically based disorders. The successful management of these disorders incurs a high financial cost, which is a great burden on the health care system. The practical solution to this problem is through prevention. Prevention of genetic disorders should ...

To this day plant breeding is most successfully carried out emperically by crossing promising lines and by selecting high yielding plants with improved quality. Biochemical genetics provides increasing possibilities to determine the metabolic pathways leading to storage proteins, enzymes, flavonoids and fatty acids, compounds which give favourable or unfavourable quality characteristics to the ...