Variation

Question 1

Genetic variation

Answer 1

Continuous mutational process
Microscopic structural variations: ~3Mb(heterochromatin, aneuploidies, chromosome rearrangement)
Submicroscopic structural variations :1kb-3Mb (CNB)
Small scale variations:<1kb(Indel, duplication, inversion)
Single nucleotide variations (SNV—SNP)

Question 2

Polymorphism

Answer 2

variations with population frequency larger than 0.01

Question 3

Haploinsufficiency

Answer 3

50% of gene product cannot maintain normal activity

Question 4

Missense

Answer 4

Amino acid change
Might or might not leads to protein structure and function changes

Question 5

Nonsense

Answer 5

Lead to stop codon

Question 6

Synonymous

Answer 6

Not leading to amino acid change

Question 7

Splice site mutation

Answer 7

Might be synonymous, error might be minor

Question 8

Trinucleotide repeat

Question 9

Non-allelic-homologous recombination

Answer 9

2 DNA fragments have high sequence similarity, but not allele
Deletion syndrome goes along with duplication