Mutations

Question 1

What is Trisomy 21

Answer 1

Down syndrome
Non-dysjunction of trisomy 21
maternal origin

Question 2

What is trisomy 13

Answer 2

Patau syndrome
Maternal origin

Question 3

What is trisomy 18

Answer 3

Edwards syndrome
Maternal origin

Question 4

What are the sex chromosome aneuploidy syndromes

Answer 4

45,X Turner syndrome
47,XXY (Klinefelter syndrome)

Question 5

What syndrome is 45,X

Answer 5

Turner syndrome
One less chromosome
Neck webbing
Females of short stature

Question 6

What syndrome has one extra chromosome

Answer 6

Klinefelter syndrome
Tall long limbs
Male infertile, small testes 50% gynaecomastia
Mild learning difficulties

Question 7

What are the different structural abnormalities of chromosomes

Answer 7

Balanced or unbalanced rearrangements
Translocations
Deletions- deleted part
Insertions
Inversions- turned around

Question 8

What are the different types of coding mutations

Answer 8

Silent- no affect
Missense- new codon produced
Nonsense - becomes stop codon
frameshift- deletion/insertion

Question 9

How does gel electrophoresis seperate dna

Answer 9

Applies electric field to seperate

Question 10

How do we detect mutations?

Answer 10

Polymerase Chain Reaction (PCR)
Gel electrophoresis
Restriction fragment length polymorphism
Amplification refractory mutation system (ARMS)
DNA sequencing

Question 11

What do we need for PCR?

Answer 11

Sequence information
Oligonucleotide primers
DNA
Nucleotides
DNA polymerase

Question 12

What is the gold standard for mutation detection?

Answer 12

DNA Sequencing

Question 13

3 major types of chromosomal abnormalities

Answer 13

Numerical-where wrong number of chromosomes is present in a karyotype
Structural- Large scale rearrangement
Mutational