biomed unit 2.2 study guide

What is the process used to analyze a patient and develop a list of potential diagnoses?

This involves assessing patient information, symptoms, and medical history to identify reasonable diagnoses.

How can you visually demonstrate the process of mitosis?

By annotating diagrams of mitosis to highlight each stage and explain the processes involved.

What are the key differences between cancer cells and normal cells?

Cancer cells divide uncontrollably, can invade other tissues, and often have abnormalities in their DNA, while normal cells have regulated growth and function.

Why is a biopsy performed and how should it be explained to a patient's parents?

A biopsy is performed to obtain tissue for examination to diagnose or rule out cancer, and it should be described in clear, simplified terms without medical jargon.

What are the different kinds of proteins and their roles?

Proteins can be enzymes, structural proteins, hormones, etc., each playing a vital role in biological processes; for example, enzymes facilitate biochemical reactions.

How do mutations in DNA affect proteins and individuals?

Mutations can lead to changes in the amino acid sequence of proteins, potentially resulting in dysfunctional proteins that can cause diseases or abnormalities.

What is the purpose of a pedigree in genetics?

A pedigree visually represents family relationships and genetic traits, helping to track the inheritance patterns of diseases within families.

Explain the difference between homozygous and heterozygous alleles.

Homozygous alleles are identical (e.g., AA or aa), while heterozygous alleles are different (e.g., Aa).

What is Familial Hypercholesterolemia and its mode of inheritance?

Familial Hypercholesterolemia is primarily caused by a mutation in the LDL receptor gene, leading to high cholesterol levels, and it is inherited in a dominant manner.

What are the implications of nondisjunction in meiosis?

Nondisjunction can lead to gametes with an abnormal number of chromosomes, resulting in conditions like trisomy or monosomy in offspring.

What is a karyotype and its purpose?

A karyotype is a display of the complete set of chromosomes in an organism, used to identify chromosomal abnormalities.

Describe the steps involved in performing a chromosome spread.

The steps include cell culture, cell harvesting, hypotonic solution treatment, fixation, and slide preparation followed by staining.

What can go wrong during transcription and translation?

Errors in transcription (like incorrect RNA synthesis) or translation (like wrong amino acid incorporation) can produce dysfunctional proteins.

How can you illustrate different mutation types?

By showing the effects each type of mutation (insertions, deletions, substitutions) has on the DNA sequence, mRNA, and resulting amino acid chain.

What is gel electrophoresis and its application in genetic testing?

Gel electrophoresis separates DNA fragments based on size for analysis, helping to identify mutations or genetic disorders like FH.