COMPLETE SOLUTIONS 100% VERIFIED
How many pairs of chromosomes?
Pairs of autosomal and sex-chromosomes?
23 - 22 autosomal and 1 sex
How many protein coding genes are for enzymes, structures, signals?
20k
What percentage of the genome is transcribed?
Non-protein coding genes work in what?
85%
Gene regulation
Jobs of Non-protein coding genes
Promoters and enhancers
Chromatin scaffolding
non-coding RNAs (microRNA, IncRNA)
mobile genetic elements (transposons)
Special structures like centromere and telomere
Changes in non-protein coding genes can cause?
*Disease
SINGLE NUCLEOTIDE POLYMORPHISM (SNP)
,One letter change in DNA
occur across the genome (PC and NPC genes)
6 million identified in humans
can affect phenotype or be neutral
*Neutral can be used for ID
Copy number variations (CNV)
Different numbers of copies of long stretches of DNA
Duplications, deletions of copies
Inversions where things get switched around
50% in gene-coding regions, so affect phenotype
Genotype
what your genetics are, or what the DNA code is
Your genome encodes a particular allele, a sequence
a, c, t, g
Phenotype
the observable outcome of the code
Something like genes give you brown eyes
TERMINOLOGY
Congenital
Familial
Hereditary
A. transmitted in the parental gametes
, B. present at birth
C. appears to be passed on in a family whether mutation is known or unknown
Congenital A.
Familial C.
Hereditary B.
Epigenetic regulation
Affect availability of the genome for transcription.
Markers include: DNA methylation(silence an area of DNA), histone modification(make
more/less DNA available for activation)
MicroRNA
Silences mRNA translation to manage gene expression
IncRNA (think size + shape)
regulates at transcription
Activate or suppress gene transcription
Promote epigenetic changes
Build complexes
Central Dogma of Molecular Biology
DNA (genes) ((Epigenetic changes))
Transcription (IncRNA) ->
mRNA (microRNA)
Translation ->
Protein
Mutations