other

Question 1

Aneuploidy

Answer 1

• abnormal number of chromosomes e.g. 45 or 47 instead of 46

note: doesn’t include abnormal sets of chromosomes

Question 2

copy number variants

Answer 2

parts of the genome are repeated and the number of repeats are different among people in the population

Question 3

Inverted repeats

Answer 3

example of an inverted repeat–> AAAAAxxxTTTTT

definition- a single stranded sequence whose complementary sequence is found downstream

Question 4

microsatellites

Answer 4

• a category of genetic markers comprising repeats that are 1-5 nucleotides in length

Question 5

minisatellites

Answer 5

• genetic markers that are 10-100 nucleotides in length

Question 6

Polyploidy

Answer 6

-more than 2 paired sets(!!) of chromosomes

Question 7

low copy number repeats (LCR)

Answer 7

• 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!

Question 8

restriction fragment length polymorphism

Answer 8

-a technique that allows us to find variations in homologous DNA sequences (polymorphisms) by using restriction enzymes

Question 9

short interspersed nuclear elements

Answer 9

a class of retrotransposons

Question 10

single nucleotide polymorphism

Answer 10

difference in a single nucleotide

Question 11

tandem repeats

Answer 11

when a pattern of one or more nucleotides is repeated and the repeats are directly adjacent to each other