Genetics origin

In addition to the specimens discussed above, it is common for the laboratory of Neonatology to process the erythrocytes and the leukocytes for enzymatic defects of genetic origin including aberrant hemoglobin identification. The laboratory which services the adult would be called upon to do these tests much less commonly. 

Screening for the numerous disease of genetic origin on newborns will be expanded so that eventually a battery of tests will be utilized for the determination of the erythrocyte abnormalities and abnormalities of intermediate metabolism. 

Whatever mechanisms may be involved in producing variable sensitivity to pain, they must have a genetic origin, and it would appear that all gradations of sensitivities from zero up to the highest level exist in the tissues of different individuals. 

The question of the possible existence of copper deficiencies of genetic origin is related to the dietary supply of other elements, notably molybdenum. It is known that in animals excessive ingestion of molybdenum imposes a state of copper deficiency. 18... 

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... 

Another application of bioinformatics is the use of pharmacogenomics. There are some diseases, such as sickle cell anemia (Exhibit 2.3), in which the difference of one amino acid group can have drastic consequences. These differences in nucleotides are termed single nucleotide polymorphisms (SNPs). SNPs, whether due to genetic origins or environmental factors, translate to individual differences. By understanding these SNPs using bioinformatics, more individualized medicines with better efficacy and less adverse effects can be prescribed. 

Goldie JH, Goldman AJ (1984) The genetic origin of drug resistance in neoplasms implications for systemic therapy. Cancer Res 44 3643-3653... 

All species and strains have a low level of background fetal abnormalities, many of which are of genetic origin. The interpretation must distinguish between a high incidence due to chance, and an increase due to the test substance. It is impossible in this chapter to cover every eventuality, but the following points will serve as a guide. 

To date, the genetic origin of low HDL cholesterol has been unraveled only to a minor degree. Family studies in humans have identified at least 30 quantitative trait loci that cover almost all chromosomes. Most known mutations underlying monogenic forms of HDL deficiency have been found in genes that encode proteins involved in the formation, maturation, and catabolism of HDL. 

Biochemical individuality, which is genetically determined, is accompanied by. and in a sense based upon, anatomical individuality, which must also have a genetic origin. Substantial differences, often oflaige magnitude, exist between the digestive tracts, the muscular systems, the circulatory systems. the skeletal systems, the nervous systems, and the endocrine systems of so-called normal people. Similar distinctiveness is observed at the microscopic level, for example in the size, shape and distribution of neurons in... 

F5. Foster, M. H., Cizman, B., and Madaio, M. P., Nephritogenic autoantibodies in systemic lupus erythematosus. Immunochemical properties, mechanisms of immune deposition, and genetic origins. Lab. Invest. 69, 494-507 (1993). 

HETEROKARYON A cell or fungal hypha that contains nuclei of more than one genetic origin nuclei in heterokaryons generally do not fuse, but can divide individually and simultaneously to form new multinucleate (or binucleate) cells or hyphae. 

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