Key terms - Genetics techniques

Question 1

tandem duplication

Answer 1

change in DNA sequence - DNA segment is duplicated and remains adjacent to the original

Question 2

dispersed duplication

Answer 2

change in DNA sequence - duplicated segment is not adjacent to the original.

Question 3

copy number variant

Answer 3

changes in the number of copies of a DNA segment - includes, deletions, insertions, duplications and rearrangements

Question 4

array-CGH

Answer 4

array comparative genomic hybridisation

high-throughput technique used to detect chromosomal copy number variations (CNVs) and structural abnormalities in the human genome

Question 5

SNP microarray genotyping

Answer 5

uses GWAS where many known SNPs from many individuals can be genotyped

can identify what genetic variant of a SNP someone has (for disease/ trait associated variants), whether they’re heterozygous or homozygous