Summary: Moleculaire Genetica

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  • 1 Intro

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  • What is an euploid karyotypic state?

    Euploidy implies that each of the autosomes is present in normally structured pairs and that the X nd Y chromosomes are present in the numbers appropriate for the sex of the individual carrying them.
  • How is a mutation passed on to the next generation?

    Via the germ line. The responsible mutation must strike a gene carried in the genome of sperm or egg or in the genome of one of the cell types that are immediate precursors of the sperm or egg within the gonads.
  • Which two groups of genes are there within mammalian cells?

    - Housekeeping: encode proteins that are required universally to maintain viability of all cell types throughout the body or to carry out certain biological functions common to all cell types. 
    - Tissue-specific: encode proteins and thus phenotypes that are associated specifically with this cell type.
  • What are transcription factors (TFs)?

    Proteins that coordinate the expression. Many of these proteins bind to specific DNA sequences in the control region of each gene (sequence motif) and determine whether or not the gene will be transcribed.
  • What are the possible post-translation modification of the N-terminal tails of histones?

    1. Methylation
    2. Acetylation
    3. Phosphorylation 
    4. Ubiquitylation
  • 2 Nature of cancer

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  • Where does the majority of human tumors arise from?

    Epithelial tissues. These are the carcinomas.

    * Epithelial cell layers of the GI tracts (mouth, oesophagus, stomach, small & large intestine), skin, mammary gland, pancreas, lung, ovary, uterus, prostate, gallbladder & urinary bladder.
  • What is the basement membrane (basal lamina)?

    It separates the epithelial cells from the underlying layer of supporting connective tissue cells (stroma).
  • Which forms of carcinomas are there?

    - Squamous cell carcinomas: tumors that arise from epithelial cells forming the protective layers (seal cavity or channel). 
    - Adenocarcinomas: specialized epithelia cells that secrete substances into the ducts or cavities that they line.
  • Which nonepithelial cancers are there?

    1. Sarcomas: derived from connective tissues (mesoderm). 
    - Mesenchymal cell types: fibroblasts, adipocytes, osteoblasts, myocytes. 

    2. Hematopoietic tissues: blood forming tissues incl. Cells of the immune system. 
    - Leukemia & lymphomas.

    3. Central & peripheral nervous system: neuroectodermal tumors.
    - Ectoderm 
    - gliomas, glioblastomas, neuroblastomas, schwannomas, medulloblastomas.
  • What is the hyperplastic state?

    Growths with excessive numbers of cells. However, the cells can still assemble into tissues that appears normal.

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