Molecular Genetic Diagnostic Techniques

Question 1

Nucleic Acid Hybridization, FISH

Answer 1

• detects specific sequence
• Trisomy 13 (but not a robertsonian transformation)

Question 2

Comparative Genomic Hybridization

Answer 2

• detects copy number changes
• Trisomy 18

Question 3

Single Nucleotide Polymorphism

Answer 3

• detect copy number variations and zygosity (similarity of alleles)
• uniparental disomies (Angelman, Prader-Willi)

Question 4

Polymerase Chain Reaction

Answer 4

• selectively amplifies target NAs

Question 5

Amplicon Length analysis

Answer 5

• uses PCR product on gel electrophoresis
• triplet repeat disorders (Fragile X, Huntington)

Question 6

Restriction Fragment Length Analysis

Answer 6

• identifies point mutations in PCR products
• hereditary hemochromatosis

Question 7

Direct DNA Sequencing

Answer 7

• looking for specific disease variants
• sickle cell anemia

Question 8

Next Gen Sequencing

Answer 8

• high-throughput sequencing that can detect mutations large and small
• Marfan’s

Question 9

Maternal Free Serum DNA

Answer 9

• sequences fetal DNA in maternal blood
• Turner Syndrome