Human Genome and Human Genetic Diversity Flashcards
gene families are arisen by
gene duplication
what are pseudogenes
DNA sequences that closely resemble known genes but are non functional
for most autosomal genes, how many copies are expressed
both copies are expressed
what is allelic imbalance
when some genes are expressed at different levels from the two copies or are expressed from only one of the two homologues
what is function of exons
determine the amino acid sequence of protein, expressed portion of DNA
what are introns
initially transcribed into RNA in nucleus but removed in mature mRNA
what process removes introns and where does it happen
splicing and in cytoplasm
where is poly A sequence added
on 3’ region
where are promoter and enhancers found
on 5’ region
RNA splicing can result in multiple _____
gene products
what is central dogma
DNA ——> RNA ——-> protein
what processes are needed for mature mRNA to occur
capping, polyadenylation, and splicing
what enzyme is responsible for initiating transcription
RNA polymerase II
where does transcription start
5’ UTR
what are the 3 types of RNA
mRNA, rRNA, and tRNA
function of mRNA
copy DNA code and carries info to ribosome
function of rRNA
along with protein makes up ribosome
function of tRNA
transfers amino acid to ribosome where protein is made
what codon initiates translation
methinonine (AUG)
what aspect is associated with gene repression
DNA methylation at CpG dinucleotides
many mutations are spontaneous that happen during ____
normal processes like DNA replication and repair
what occurs in nucleotide substitution
one nucleotide is replaced for another
what is a missense mutation
single nucleotide substitution in coding region that will alter the code
what is nonsense mutation
causes replacement of normal codon for stop codon
