Lecture 20b Flashcards
What is Locus Heterogeneity?
When a disease can be caused by mutations in two or more different genes.
Basically, there are several genes that could have a mutation in one of them and cause the disorder.
What is an example of a disease that exhibits Locus Heterogeneity?
Hemophilia
T/F: Blood clotting only involves one protein.
False! Blood clotting involves a cellular cascade that involves several different proteins.
Name the proteins that can be responsible for Hemophilia.
Hemophilia A, B, and C.
When is Hemophilia A observed?
When there is a defect in clotting factor VIII
What is Hemophilia B caused by?
Caused by a defect in clotting factor IX
T/F: Both Hemophilia A and B are Y-linked recessive disorders.
False! Both Hemophilia A and B are X-linked recessive disorders.
What is Hemophilia C caused by? Where is it found on?
Caused by a defect in clotting factor XI. Found on chromosome 4.
In terms of Multifactorial and Polygenic Disorders, what do twin studies allow for?
Allow us to learn the relative importance of genetics vs [epigenetics + environment].
In terms of Multifactorial and Polygenic Disorders, what do we observe with monozygomatic twins?
These are identical twins, so they contain the same genes. We can see that in many cases, one can have the disorder and the other does not, showing the importance of the environment + epigenetics.
T/F: Almost all types of cancers are mendelian diseases.
False! Almost all cancers are multifactorial and polygenic disorders. Chronic Myelogenous Leukemia is one of the few single gene cancers.
Multicellular organisms begin their lives as a ____________ ______ which then undergoes _______ ___________, _______ _____________, and changes in _____________ characteristics.
fertilized egg, cell division, cell migration, cellular
What does Developmental Genetics study?
Studies the genes that orchestrate the changes that occur during development.
T/F: The development field is quite far along compared to DNA replication or transcriptional regulation.
False! The development field is not as far along as fields such as DNA replication or transcriptional regulation.
Why has the Developmental Genetics field established concepts and paradigms?
These concepts and paradigms may prove widespread during development or may turn out to only apply to one or a few situations; we don’t know yet
Since developmental biologists cannot experiment on humans, what do they study?
Model organisms
What does multicellular development in plants and animals follow?
Follows a body plan or body pattern
Define Body Pattern.
The body pattern is the arrangement of cells and their specialization.