Principles Random Flashcards
1
Q
What is an unbalanced chromosomal arrangement?
A
There is extra or missing chromosomal material
2
Q
What does aneuploidy mean?
A
Whole extra or missing chromosomes
3
Q
What investigation can look for point mutations such as those that cause cystic fibrosis, by isolating and looking at the base sequence of the gene?
A
PCR and sequencing
4
Q
What investigation do you use if you have a lot of genes to look at?
A
Next generation sequencing
5
Q
What does Array Comparative Genomic Hybridization detect?
A
chromosomal imbalance
