Aneuploidy
- abnormal number of chromosomes e.g. 45 or 47 instead of 46
note: doesn’t include abnormal sets of chromosomes
copy number variants
parts of the genome are repeated and the number of repeats are different among people in the population
Inverted repeats
example of an inverted repeat–> AAAAAxxxTTTTT
definition- a single stranded sequence whose complementary sequence is found downstream
microsatellites
- a category of genetic markers comprising repeats that are 1-5 nucleotides in length
minisatellites
- genetic markers that are 10-100 nucleotides in length
Polyploidy
-more than 2 paired sets(!!) of chromosomes
low copy number repeats (LCR)
- also called segmental duplications; are highly homologous sequence elements within eukaryotic genome
- misalignments of LCRs during NAHR (non-allelic homologous recombination) underlies the mechanism of many microdeletions and duplications!
restriction fragment length polymorphism
-a technique that allows us to find variations in homologous DNA sequences (polymorphisms) by using restriction enzymes
short interspersed nuclear elements
a class of retrotransposons
single nucleotide polymorphism
difference in a single nucleotide
tandem repeats
when a pattern of one or more nucleotides is repeated and the repeats are directly adjacent to each other
