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Updated: May 4 2022

Genetic Pearls

3.8

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  • Genetic conditions
      • Autosomal Dominant
      • Achondroplasia
      • FGFR3
      • Inhibition of chondrocytes proliferation
      • Apert Syndrome
      • FGFR2
      • Inhibition of chondrocytes proliferation
      • CMT (80-90%)
      • PMP22
      • Nerve demyelination
      • Pseudoachondroplasia
      • COMP
      • Abnormal cartilage formation
      • SED congenita

      • COL2A1 / Type II collagen
      • Defect in cartilage matrix formation
      • Kniest Dysplasia
      • COL2A1 / Type II collagen
      • Defect in cartilage matrix formation
      • MED - Type I
      • COMP
      • Type II collagen
      • MED - Type II
      • Type IX collagen
      • Type IX collagen
      • Jansen's metaphyseal chondrodysplasia
      • PTHrP
      • Functional defect in parathyroid hormone
      • Schmid's metaphyseal chondrodysplasia
      • Type X Collagen
      • Defect in cartilage matrix formation
      • Cleidocranial dysplasia
      • RUNX2/CBFA1
      • Impaired intramembranous ossification
      • Osteogenesis Imperfecta
      • (Type I, II, III, IV, V)
      • COL1A1/COL1A2
      • Type I collagen
      • Autosomal Recessive 
      • Diastophic dysplasia
      • DTD
      • (Sulfate Transport Protein)
      • Defect in sulfaction of proteoglycan
      • Friedreich Ataxia
      • Frataxin
      • Osteogenesis Imperfecta
      • (Type VI)
      • SERPINF1
      • McKusick metaphyseal chondrodysplasia
      • RMRP gene
      • X-Linked Recessive
      • SED tarda
      • TRAPPC2 gene
      • Type II collagen
      • CMT (10-20%)
      • Connexin gene
      • Nerve demyelination
  • Epigenetics
    • Overview
      • epigenetic changes include inheritable genetic alteration (developmental or environmental cues) that do NOT involve DNA mutation
      • DNA methylation, histone modification, nucleosome location, or noncoding RNA are components of epigenetics
      • osteoarthritis is thought to have epigenetic mechanisms that influence the disease process
  • Translocations
    • Overview
      • translocations allow expression of genes (oncogenes) that are usually not active.
      • cytogenetic analysis allows for the detection of gene translocations by evaluating the size and number of chromosomes isolated from the cell nucleus.
    • Examples
      • present in up to 95% of sarcomas.
        • Translocations
        • Disease
        • Translocation
        • Gene
        • Ewing's sarcoma
        • t (11:22)
        • Fusion protein (EWS-FLI1)
        • Rhabdomyosarcoma
        • t (2:13)
        • Pax3-FKHR
        • Myxoid liposarcoma
        • t (12:16)
        • TLS-CHOP
        • Synovial sarcoma
        • t (X:18)
        • SYT-SSX1, 2, or 4 fusion protein
        • Clear cell sarcoma
        • t (12:22)
        • Fusion protein EWS-ATF1
        • Chondrosarcoma
        • (Myxoid Variant)
        • t (9:22)
        • Fusion protein EWS-CHN
  • Tumor Suppressor Genes
    • Definition
      • inhibit cell proliferation
      • therefore a mutation interfering with normal function causes leads to uncontrolled cell growth
    • Examples
      • retinoblastoma protein (pRB-1)
        • acts as a regulator of gene expression
        • recessive suppressor
          • both alleles must be mutated to have uncontrolled growth
        • Rb mutation in
          • 100% of retinoblastomas
          • 35% of osteosarcomas
        • abnormal state is phosphorylated and unable to bind to DNA to regulate
      • p53
        • normal protein prevents entrance into S-phase of cell cycle when DNA is damaged
        • dominant suppressor
          • single allele must be mutated to have uncontrolled growth
        • mutation in this gene found in
          • 50% of all tumors
          • osteosarcoma (20-65%)
          • chondrosarcoma
          • Li-Fraumeni syndrome
  • Oncogenes
    • Definition
      • induce uncontrolled growth
      • normal function causes leads to uncontrolled cell
    • Examples
      • FAK
        • focal adhesion kinase
      • Erb-2
        • epidermal growth factor variant
  • Tumor Antigens
    • Definition
      • tumor antigens are used in the diagnosis, monitoring of treatment response, and are being researched for treatment options as anti-cancer vaccines
    • Examples
      • carcinoembryonic antigen (CEA)
        • colorectal carcinoma
      • carbohydrate antigen 19-9 (CA-19-9)
        • pancreatic cancer
      • carbohydrate antigen 125 (CA-125)
        • ovarian cancer
      • cancer antigen 15-3 (CA-15-3)
        • breast cancer
      • alpha fetoprotein (AFP)
        • can be seen in many cancers, but is most commonly seen in hepatocellular carcinomas
  • Assays
    • Western blot
      • detects protein
    • Southern blot
      • detects DNA
    • Northern blot
      • detects RNA
    • Southwestern blot
      • detects DNA binding proteins
    • RT-PCR
      • reverse transcription PCR
      • highly sensitive, detects low copy number of RNA
      • reversed transcribed into complimentary DNA (cDNA)
      • may be used together with Northern blot
    • siRNA
      • small interfering RNA; blocks translation of mRNA
      • useful for loss-of-function experiment designs
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