NUR 239 Lecture Notes - Lecture 21: Human Genome Project, Base Pair, Cell Nucleus
21 May 2018
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Department
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NUR 239/Pathophysiology and Pharmacotherapeutics in Nursing I
Unit 4/Porth Chapter 5 and 6
Complete the following study guide and submit on Reggie Net by the due date on the Course Calendar
Key Terms (Porth Chapter 5 – Genetic Control of Cell Function and Inheritance)
▪ Genetics: study of genes and their role in inheritance
▪ Human Genome Project: international effort to map each human gene and completely sequence human
DNA and study the legal, ethical, and social dilemmas of gene research and therapy
▪ Chromosomes: cell nucleus has 23 pairs chromosomes made up of tightly coiled and compacted DNA
molecules
▪ Mitosis: cell division of all cells except germ (sex) cells
▪ Meiosis: cell division of germ (sex) cells
▪ Genotype: the genetic constitution of an individual organism
▪ Phenotype: the set of observable characteristics resulting from the interaction of its genotype with the
environment
▪ Expressivity: variation in a no binary phenotype across people carrying a particular genotype
▪ Penetrance: extent to which a particular gene or set of genes is expressed in the phenotypes of individuals
carrying it
▪ Homozygotes: having two identical alleles of a particular gene or genes and so breeding true for the
corresponding characteristic
▪ Heterozygotes: having two different alleles of a particular gene or genes, and so giving rise to varying
offspring
▪ Dominant traits: traits that only require one copy of the same gene
▪ Recessive traits: require two copies of the same gene
▪ Carrier: person or organism that has inherited a recessive allele for a genetic trait or mutation
Key Learning Objectives - Answer the follow questions (Porth Chapter 5 – Genetic Control of Cell Function and
Inheritance):
▪ What does DNA stand for?
o deoxyribose nucleic acid
▪ What is contained in our DNA?
o Genetic information
o Determines the type of biochemical product that is needed by the cell and directs the synthesis
through transcription and translation which responsible for the assembly of protein chains
▪ What is the connection between DNA and diseases? Drugs?
o Mutation
▪ Describe genes.
o Basic physical and functional unit of heredity.
o Make up of DNA that act as instructions to make molecules.
▪ Describe the causes of accidental errors in replication of DNA (DNA Repair, p. 90).
o Mutations- substitution of one base pair for another, the loss of addition of one or more base pairs,
or rearrangement of base pairs
o Spontaneous, normal
o Some occur because of exogenous or environmental agents such as chemical or radiation
▪ What are the two types of cell division?
o Mitosis
o Meiosis
▪ Briefly explain how people with brown eyes have the same phenotype but different genotypes.
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