genome structure and genomic variations Flashcards
human genome contains how many chromosomes?
24 (22 auto, 2 sex)
intergenic regions are composed of?
noncoding DNA
intergenic regions function to?
direct assembly of specific chromatin structures and contribute to regulation of nearby genes
single nucleotide polymorphisms (SNPs) are variation once in every?
1,000 base pairs in the human genome and are essentially mutations
SNPs occur most frequently in?
noncoding regions of the genome
SNPs lead to specific?
traits and phenotypes
*PTC taste sensitivity
copy-number variation (CNVs) are?
structural variations in the genome that lead to different copies of certain sections of DNA, due to replication or deletions of large regions of the genome
tandem repeats are when the genome has?
short sequences of nucleotides are repeated one right after the other (from three to over 100 times)
unstable tandem repeats can lead to?
chromosome breaks and some implicate disease