SNP/CNV Flashcards
what is SNP
is a single base pair of DNA which is polymorphic with respect to a population
describe SNP roles
found within genome, used to identify and locate specific genes
each SNP represents the difference in nucleotide
acts as biological marker
describe synonymous
no change in amino acids but alter the mRNA
describe non synonymous
conservative and radical changes in amino acids
what is non sense
non synonymous:
non sence : insertion of a stop codon , premature stoppage of mRNA and RNA
what is InDel
non synonymous:
an insertion or deletion of a single nucleotide in a genome
what are outside/flacking genes
majority are silent, silent hitchhikers
alter transcription
regulate expression
what are roles of CNV
most likely to affect coding sequence than the point of mutation
only 20% are lively to affect protein coding
tend to affect specific gene functioning categories
what CNV are unlikely to affect
phenotype because involved in large are of non- protein coding or non regulatory sequence
what is LD
non random association of SNP in population and nra of alleles at linked loci
what is a tag SNP
is a representative of SNP in the region of genome with high LD
what are haplotypes
a set of alleles at linked loci that are present on one of the two homologous chromosomes
what is a microarray
is a collection of microscopic features (DNA) which can be probed with a target mol on a solid material which can produce quantitive or qualitative data
what are 36-22 SNP cluster associated with
CDV and energy intake
what type 1 ( R2 and R3) taste receptors associated with
dental carriers and obesity
transmembrane protein allows human to taste sweet
