Molecular pathology of single-gene disorders Flashcards
Some mutations commonly results in a truncated, absent or almost absent protein. These mutations is termed ____ mutations.
null/protein 0 or cross-reacting material (CRM)-negative mutations
transcripts encoding truncated proteins are often degraded by a process known as _____.
nonsense-mediated decay.
Missense mutations (amino acid substitutions), there is often a relatively normal amount of protein produced although its function may be impaired to some extent. This mutation is referred to as _____.
leaky/protein+/CRM-positive mutations
The level of protein that is expressed can be detected by laboratory techniques such as ______, in w/c a protein - specific antibody is used to detect the protein, generally in a tissue section on a slide, and _______, in w/c the proteins are extracted from fresh tissue (or cultured cells) and then separated by electrophoresis, prior to detection, again using a protein - specific antibody.
immunohistochemistry; Western blotting
Length mutations due to trinucleotide repeat amplifications are the major pathology found in:
myotonic dystrophy
the fragile X syndrome (a cause of mental handicap)
Huntington disease (a cause of dementia).
Length mutations due to _____ are the major pathology found in myotonic dystrophy, the fragile X syndrome (a cause of mental handicap) and Huntington disease (a cause of dementia).
trinucleotide repeat amplifications
In sickle - cell anaemia, all patients have a point mutation that results in substitution of ____ in place of _____ at amino acid position _____ in _____ gene.
valine; glutamic acid; 7; β – globin
_____ of Caucasian patients in the UK & USA w/ cystic fibrosis have a 3 bp deletions at amino acid position 508, whereas this mutation is found in less than _____ of Turkish or Arab patients w/ cystic fibrosis.
two - thirds; one - third
