biomed unit 2.2 study guide

Topic 

Learning Objective

2.2.1

Analyze a patient & develop a list of reasonable potential diagnoses.

Annotate diagrams of mitosis to show understanding of the process.

Identify key terms relating to the patient’s diagnosis.

Contrast cancer cells & normal cells. Be able to identify images and slides of cancerous cells. 

Explain the reason for, and process of, performing a biopsy to a patient’s parents.

2.2.2

Explain the different kinds of proteins & their roles, as well as examples of each.

Explain a patient’s diagnosis using technical terms but simplifying for the family.

Annotate a diagram & fill in blanks to show understanding of the processes of transcription & translation.

Practice transcription & translation, including using a codon chart properly.

Explain what can go wrong with DNA & how it affects proteins & individuals. 

Illustrate understanding of different mutation types by showing how each could affect DNA, mRNA & amino acid chain produced. 

Analyze the sickle cell mutation.

Explain to a patient’s family why blood is being drawn & how the process will check for genetic abnormality.

Determine patient’s NF1 status including details of mutation, signs/symptoms of disease, what to expect in the future, care/treatments needed & related testing.

2.2.3

Identify key terms relating to the familial inheritance. (allele, dominant, recessive, genotype, phenotype, etc.)

Differentiate between homozygous & heterozygous alleles, determine a patient genotype & the resulting phenotype.

Give examples of various genotypes, alleles, and phenotypes while relating them to one another.

Explain to a patient’s family how their child ended up with a mutated gene,  as well as the likelihood that they could pass the mutation on.

Describe the purpose of a pedigree, the symbols used, and be able to determine the inheritance patterns of certain diseases.  Be able to determine genotypes and phenotypes of all family members in a pedigree. 

2.2.4

Use patient information (like a growth chart) to determine the potential causes of disorder, eliminating possibilities until confirming a diagnosis.

Explain how a Cytogeneticist can help the patient.

Describe the who, what, when and why of HeLa cells.

Describe the steps of performing a chromosome spread and be able to identify chromosomes in a microscope.

Explain what a karyotype is, tools used to organize the chromosomes & differences in sex chromosomes.

2.2.5

Relate terms connected to meiosis & differentiate between a graphic showing zygote(s) & one showing gamete(s).

Compare and contrast meiosis & mitosis.

Label and describe the steps of meiosis I & the steps of meiosis II.  Understand why the differences occur.

Explain how many chromosomes gametes SHOULD contain after meiosis, as well as how nondisjunction could affect this number. 

Be able to label the parts of a chromosome.

Analyze karyotypes to look for monosomy, trisomy, sex, normal chromosome #, and other chromosomal errors.

Label & describe 5 different chromosomal errors.

Complete a karyotype using chromosomes for a fictional patient. (ChromoBoard Activity)

Complete a cytogenetics report based on the karyotype & the patient history.

2.2.6

Explain Familial Hypercholesterolemia’s cause, impacts on body & mode of inheritance.

Summarize the process of testing for FH, and based on the genotype what is the recommended treatment plan.

Complete a gel electrophoresis and analyze the results for FH or other genes.

Based on electrophoresis results, create a pedigree of the Kim family members showing inheritance of FH.