Essentials of Clinical Genetics in Nursing Practice by Felissa R. Lashley RN PhD ACRN FAAN FACMG

By Felissa R. Lashley RN PhD ACRN FAAN FACMG

First-class textual content. Thorough, yet effortless to learn. offers the data in an informative, fascinating demeanour.

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During the cloning procedure, DNA fragments can be inserted into plasmids or other vectors to produce many copies of the specific fragment or gene, as well as the production of large quantities of products for treatment, such as human growth hormone, insulin, or alpha interferon. Another technique is PCR, which amplifies a chosen DNA segment rapidly and exponentially with each cell cycle, making up to millions of copies. Its inventor, Kary Mullis, was awarded the 1993 Nobel Prize in chemistry. It can do this rapidly from as little a source of DNA as one nucleated cell.

In some institutions, typing of the HLAA, HLA-B, and HLA-C loci is used to screen donors for platelet and leukocyte transfusions because of the problem of sensitivity for those persons already having such multiple transfusions. OTHER EXAMPLES OF HUMAN GENETIC VARIATION Other interesting interactions between certain genes and environment exist for various blood components in addition to those already discussed and for lactase. In another study, women with nonsecretor Lewis phenotypes and the recessive phenotype were more prone to recurrent urinary tract infections, perhaps because they provide a specific receptor for uropathogenic organisms so they can attach to these cells.

There is a new emphasis on how proteins and metabolites in the body function not only alone but in combination. Elucidating gene expression is important in normal function and in disease states. Molecular techniques are increasingly used for detection and diagnosis of genetic variations and disorders, personal identification, and epidemiological and anthropological studies. 3 Human Diversity and Variation We Are Not All Genetically Identical CASE EXAMPLE 1 GENETIC INDIVIDUALITY Ellen and Mary are next-door neighbors in Kansas City, Missouri.

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