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, attention-grabbing demeanour.

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An example is individuals who are homozygous for the gene for infantile Niemann Pick disease (an autosomal recessive disorder characterized by intellectual and physical delay, neurological effects, and hepatosplenomegaly) and who die in childhood. They are said to have genotypes with a low degree of fitness. A type of genetic drift that occurs when a small group from a large population migrates to another locale and one or more members of the founding group possess a variant allele that is rare in the original population.

An Rh (–) (dd) woman and an Rh (+) man are more likely to have an Rh (+) child if the father is homozygous (DD) than if he is heterozygous (Dd). In the latter case, the chance that the child would be Rh (+) at each pregnancy is 50% as opposed to 100%. Since the availability of Rh (D) immunoglobulin in 1968, the incidence of hemolytic disease of the newborn has markedly decreased. However, not all women who should be receiving Rh immunoglobulin are. Therefore, nurses need to be aware of events that can cause sensitization and require Rh immunoglobulin administration.

Genetic tests are described in Chapter 5, and forensic and legal applications such as genetic parenthood are discussed in Chapter 3. One of the basic tools in molecular genetics is the use of restriction enzymes or restriction endonucleases for recombinant DNA or other technology. These enzymes recognize a specific nucleotide sequence (recognition site) and cut the DNA where that sequence occurs. Different restriction enzymes have different known recognition sites, and thus the number of fragments produced by the process depends on which enzyme is used.

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