DNA based detection methods

Question 1

DNA based detection methods:

Point mutations

Answer 1

Point mutations

• DNA sequencing (dont knlow location but know the gene)
• ARMS - (allele specific PCR) (suspect point mutation, within gene, and know its exact type and location)
• OLA - oligonucleotide assay ( multiple point mutations)

Question 2

DNA-based detection methods for Submicroscopic duplications

Answer 2

a-CGH (array comparative genomic hybridization) - location unknown

Multiple PCR - known location

Question 3

DNA-based detection method:

Rapid detection of aneupolodies

Answer 3

QF-PCR

detects trisomies (21,18,13)

Question 4

Chromosome Analysis methods

Answer 4

Karytopying (light microscopy, resolution)

FISH

Question 5

FISH stands for

Answer 5

fluorescent in situ hybridisation

Question 6

DNA structure

Answer 6

nucelotides consist of:

• sugar (deoxyribose in DNA & ribose in RNA)
• Purine (adenine or guanine)
• Pyrimidine (thymine or cytocine)
• phosphate

2 nucleotide chains
coiled clockwise formin a double helix (10 nucleotides per turn)
2 chains held together by hydrogen bonds

Question 7

Protein synthesis

Answer 7

gene transcribed by RNA polymerase
spliced (remaining introns) - MRNA
mRNA diffuses into cytoplasm where translation into polypeptides takes place at ribosomes
subsequent post- translational modifications take place

Question 8

Length mutation

Answer 8

(deletions, duplications, insertions and trinucleotide repeats)

Question 9

Point mutations

Answer 9

Single nucelotide substitution)