Chapter 4: Tools of Human Molecular Genetics

Question 1

Technique that:

• uses DNA
• soak gel in NaOH to denature
• radioactive DNA probe

Answer 1

Southern Blot

Question 2

Technique which:

• matches the normal or the mutation sequence
• detects mutations with 1 base affected or a small # of bases
• only for tested or known mutations

Answer 2

Allele Specific Oligonucleotide

Question 3

Inherited pair has 1 maternal and 1 paternal chromosome pair

Answer 3

Allelic Exclusion

Question 4

Technique which:

• is for RNA, using size and abundance
• it gets the cell, separates it by size, denatures, gels it, hybridize, wash and visualize

Answer 4

Northern Blot

Question 5

Technique which:

• is used as a cloning alternative
• gets lots of DNA from a little bit
• used for crimes

Answer 5

RT-PCR

Question 6

Technique which:

-figutes out how much DNA you had to start with versus the control

Answer 6

qPCR

Question 7

Technique which:

• uses ddA, ddT, ddG, ddC which lack a 3’OH
• terminates growth
• label with fluorescence and separates with elecrophoresis

Answer 7

Sanger Sequence

Question 8

Technique which:

• chromosome analysis at M phase
• visual DNA - Visualize chromosomal aberrations such as: large deletions, duplications, translocations

Answer 8

FISH

Question 9

Technique which:

• detects difference between 2 different DNA samples
• detects duplication or deletion of 1-2 Mb
• tests larger chromosome segments/copy
• if equal copy:
• single vs 2 = 0.5:1
• 3 vs 2 = 1.5:1

Answer 9

Comparative Genome Hybridization

Question 10

Technique which:

• used for examining proteins in cell or tissue extracts
• use proteins with antibody probe
• use fluoro/antibodies to see if proteins are present

Answer 10

Western Blot

Question 11

This technique is used to identify a gene that has been deleted or if there is a significant deletion/duplication on a particular DNA fragment

Answer 11

Southern Blot

Question 12

This technique is used to screen a fetus or to confirm a single nucleotide or point mutation or small deletion

Answer 12

ASO

Question 13

This technique is used to determine the size and abundance of specific RNA in a sample

Answer 13

Northern Blot

Question 14

This technique is an alternative to cloning that amplifies a DNA, generating copies of a particular DNA sequence

Answer 14

PCR

Question 15

This technique analyzes small RNA samples; it qualitatively detects gene expression through creation of complementary DNA (cDNA) transcripts from RNA

Answer 15

RT-PCR

Question 16

This technique is used to amplify and detect or quantify a targeted DNA molecule/quantitatively measure the amplification of DNA using fluorescent probes

Answer 16

q-PCR

Question 17

This technique is used to sequence any purified DNA using ddNTPs

Answer 17

Sanger Sequencing

Question 18

This technique is used to visualize chromosomal abberations such as deletions, duplications, and translocations

Answer 18

FISH

Question 19

This technique is used to examine an entire genome or thousands of genes at one time

Answer 19

Microarray

Question 20

This technique is used to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions

Answer 20

Comparative Genome Hybridization

Question 21

This technique is used to analyze the number of transcripts made in a particular cell type, tissue, or disease state relative to another sample

Answer 21

RNA Expression Arrays

Question 22

This technique is used to examine proteins in cell or tissue extracts to detect how a molecular DNA defect alters the encoded protein to produce the clinical phenotype

Answer 22

Western Blot

Question 23

This technique uses 24 different chromosome painting probes with different fluorescent dyes that emit at different wavelengths to visualize abnormal chromosomes to diagnose specific chromosomal abberations

Answer 23

Spectral karyotyping