test

dr will cover some aspects of the first lecture + exercises

entire course is to understand the basics of genetics

few questions

1. how many genes? 20k
   • we dont know, but latest estimate is about 19300~
2. what is a gene?
   • the 19k are protein coding genes
   • but there are others that encode for rna
   • some have biological function
3. 40k~~~ is unknown
4. genome → entire genetic sequence in a single cell (mitochondrial + nuclear)
   1. nuclear molecules of dna → exactly 46 molecules (chromosomes)
5. length → 1.8m approx
6. locus → location om the chromosome where the gene is located
   1. any point of reference located
7. allele → variant of a gene in a locus
   1. 2 max
8. variable characteriscstic have more alleles (e.g height, color, etc)
   1. polymorphism → variation statistically more than 1%
      1. this hints normal
   2. mutation hints for abnormal

mutation → pathogenic variant

polymorphism → benign variant

there are 3 categories

likely benign

likely pathogenic