we’ll look at some of the PCR techs used to detect mutation

• some of these are in the lab till now since invention, some are already replaced
  • we need to grasp that things are moving crazy in terms of molecular diagnostic
    • PCR has upgraded a LOT

before

• some of the terminology, everywhere in different boxes
• used here in the course, as well as in previous courses etc
  • we’ll see this also in bioinformatics

objectives

terminology

1. mutation:
   1. since the the invetion of thi word, it aligned a lot to “disease” causative (stereotyped)
      1. now, it’s not that “common” to use this word for that, but people like to be more natural in picking the right word
         1. “variant” allelic variant\changes are most commmonly used
            1. most common variant is polymorphism
               1. anything; a variation in a population ≥ 1% is a variant (not rare; common)
               2. most frequent type is single nucleotide polymorphism
               3. usually, < 1% is pathogenic:
                  1. we’re not interested in studying (common variant)?
                  2. the reason of linking gene variant or mutation to a disease, the best modal of it is to study gene phenotype link
                     1. we can link the genotype to the phenotype
                     2. but if it’s very common, it’s hard to link it
                        1. e.g young disorders; rare diseases → easily linked to a specific gene\variant to a specific phenotype
      2. germline mutation (offspring)
      3. somatic

how do we name these variants?

• specially now we have the Human genome project stored, how do we annotate\recall a dna variant?

they sat down and set up a some sort of comittee, and then had a some sort of recommendation to follow when naming the variant