Complication that affect inheritance of single gene disease


  1. Variable expression ---some severely affected some mildly affected. Ex;hereditary hemochromatosis, neurofibromatosis type 1
  2. incomplete penetrance--genotype same phenotype not display.EX: heriditary retinoblastoma
  3. pleiotrphy- single mutate affect mutipe organ part. EX: marfan syndrome,cystic fibrosis. 
  4. locus heterogenity-- the same disease phenotype can be cause b y mutation at diferent loci.Often involved mutation in coding of multi-chain molecules. EX: osteogenic imperfecta,brittle bone disease,mutation in collagen boes,chromosomes 7/12.
  5. new mutation
  6. delay age of onset
  7. anticipation-- most recent generation develop disease at earier age with greater severity
    EX: myotonic dystrophy,fragile x syndrome ,hungtinton disease and freidrech-ataxia.
  8. imprinting-the gene from the other parent is inactivated by methylationj during gametogenesis.

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