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57 Cards in this Set
- Front
- Back
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What is pleiotropy?
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Several defects originating from one gene
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What is Waardneburg syndrome?
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A malformation caused by pleiotropy. Pigmentation abnormalities and deafness occur
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What is mosaic pleitropy??
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Same gene mutation but different effects on different organs
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What is translational pleitropy?
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Tissue affected by a gene defect of a gene that tissue does not express
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What is genetic heterogenity?
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Mutation on gene results in same phenotype
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What 2 techniques revolutionized development?
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Position gene cloning and candidate gene mapping
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What is cyclopia?
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Mutation in shh (shh-->cholesterol synthesis)
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What is phenotypic variability?
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One mutation leading to different phenotypes
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Bellusi
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Looked at mutation of FGFR3 gene in unrelated individuals and all had differing symptoms and variable severity
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o Freire-Maia
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Studied limb defect in family which had varied degrees severity
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What is haploinsuffiency?
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Means one copy of gene is not enough to produce enough gene product
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What is thanatophoric dysplasia?
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A syndrome caused by FGF43 constantly being active
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What is a dominant negative allele?
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A mechanism of dominance that occurs when one allele of a subunit of a protein has a mutation
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What is Marfran syndrome?
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- A disease of the extracellular matrix
- Joint and connective tissue abnormalities -Caused by mutation in fibrillin |
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What causes alpha-thalasemia?
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A mutation in termination codon of alpha-globin mRNA which leads to anemia and undersized red blood cells.
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What are causes of infertility?
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- Problems with egg or sperm production
- Physical block of ducts - Incompatibility between egg and sperm |
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What are treatments of infertility?
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- Medicine (i.e. hormones)
- Concentration and injection of sperm - Assisted reproduction technology |
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What is in vitro fertilization?
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- ART
- an ART in with oocytes and sperm are retrieved from the male and female partners and placed together in a petri dish where fertilization can take place. The fertilized egg is then transferred to the female’s uterus. |
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What is preimplantation genetics?
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Branch of medicine that tests for genetic disease before the embryo enters the uterus
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When is Chorionic villus sampling done?
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Before baby is born
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What is Rachel Carson famous for?
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Showed DDT affected development of bird fetuses
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What are disruptions?
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Abnormalities caused by exogenous agents
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What are teratogens?
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Agents responsible for disruptions
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What are ways ethanol affects development?
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- impaired neural crest migration
- induced apoptosis (delete neurons and superoxide radicals generate) - Inhibits L1 which leads to retardation and FAS syndromes |
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Where is retinoic acid important?
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Forming the anterior-posterior axis and jaws of the mammalian embryo
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What are sources of retinoic acid?
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Vitamin A and acne medicine
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What are endocrine disruptors?
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Exogenous chemicals that disrupt development by interfereing with normal function of hormones.
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What are the 3 mechanisms of endocrine disruptors?
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- mimic the effects of a natural hormone by binding that hormone’s receptor
- Block synthesis of a hormone or binding to its receptor - Interfere with the transport of a hormone or its elimination from the body |
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What is Bisphenol A (BPA)?
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It is synthesized estrogenic compound using in plastic production.
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What effects does BPA have?
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- Chromosome abnormalities and meiotic defects
- Change sexual development |
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What sexual development changes does BPA force to occur?
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lower human sperm counts, increased prostate gland size, and lower age of female sex maturation
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What is Testicular dysgenesis syndrome (TDS)?
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- Disorganized testicular development
- Testicular germ cell tumors - Low sperm count |
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What is a. Teratocarcinoma?
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Malignant tumor of germ cells or stem cells that resemble the inner cell mass of the mammalian blastocyst
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What are the 5 signs that cancer is a problem with development?
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- Tumor cells have normal genomes and aren't malignant unless their environments makes them
- Cancer is caused by miscommunication - Tumor cells migrate - Properties of cancer can be explained by what we know about development - Defects in paracrine signaling pathway causes cancer |
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What is a Medulloblastomas?
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A common malignant brain tumor in children
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What are Metalloproteinases?
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Enzymes used by migrating cells to digest a path to their destination
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What is MITF and what does it activate?
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MITF activates tyrosinase and other melanin-forming genes, and activates anti-apoptosis gene BLC2
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What is the cancer stem cell hypothesis?
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The idea that certain cancers arise from adult stem cells
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What is differentiation therapy?
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Forcing cancer cells to differentiate rather than proliferate
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What are tumor angiogensis factors?
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Factors secreted by microtumors in order to cause vascularization
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What is somatic cell gene therapy?
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It involves a committed stem being cultured, given a new gene and reinserted into the body.
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What is germline gene therapy?
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It is a therapy that eliminates faulty genes both from the individual and from their descendants
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What are the 2 ways germline gene therapy is accomplished?
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- A germ cell/fertilize egg is modified so that the new genome is present in an individuals body
- Modification of embryonic stem cells so that it contains a high percentage of cells derived from altered blastomeres. |
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What are the issues with germline gene therapy?
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- Inserted gene might knock out a functioning gene
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What are 3 reasons why mammal clones are abnormal?
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- Faulty activation of imprinted genes
- Failure of histone modifications -Methylation deficiencies |
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What are two ways human embryonic stem cells are obtained?
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- Derived from inner cell mass blastomeres of human blastocysts
- Generated from germ cells derived from spontaneously aborted fetuses |
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How is therapeutic cloning conducted?
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A nucleus from a patient is insertedinto an enucleated oocyte. The embryo is grown in vitro until it has developed an inner cell mass and these inner cells are cultured to generate stem cells
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What are the 2 limitations of committed multipotent stem cells?
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- Low rate of cell division
- Do not proliferate readily |
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What are mesenchymal stem cells/bone-marrow derived stem cells?
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Stem cells that are capable of integrating into the inner cell mass of a blastocyte and expressing Oct4 (like ES cells)
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What are 3 sources of pluripotent stem cells?
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- Adult bone marrow
- Umbilical cord - A fetus (provides for its mother) |
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What is the gene Rag2 important for?
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Recombining DNA to make antibodies
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What are 4 ways that are being used to make functional bone?
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- Using a plasmid
- A mixture of paracrine factors to recruit stem cells and produce normal bone - Make artifical scaffolds and seed with mesenchymal stem cells - Let body do work itself |
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What is tissue engineering?
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Combining developmental biology and mechanical engineering
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What makes the myelin sheath of an axon?
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Schwann cells, a type of glial cell in the PNS
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What are oligodendrocytes?
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Myelinated glail cells in the CNS
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What are 3 substances from oligodendrocyte myelin that inhibit axonal outgrowth?
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- Nogo-1
- Oligodendrocyte-myelin-associated glycoprotein - Oligodendrocyte-myelin glyco-protein |
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What is olig1?
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A transcription factor required to heal myelination defects in mammals
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