Genetics: Lab Methods Flashcards Preview

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Flashcards in Genetics: Lab Methods Deck (14)
1

DNA Cloning Mech

Cleave plasmid w/ restriction nuclease, insert DNA fragment to be cloned, insert recombinant DNA into bacteria, propagate bacteria, purify recombinant bacteria

2

FISH

Hybridize fluorescent probes to chromosome, wash, visualize 2 regions of complementary DNA per chromosome

3

Southern Blotting Characteristics/Uses

Labor/time-intensive, but can detect large repeats and methylation status so used to detect Fragile X syndrome

4

Southern Blot Method

Restrictions create different size fragments, run through electrophoresis, can see the size of DNA that binds to probe and thus # of repeats

5

Quantitative PCR

Real time PCR

6

Gold Standard for Mutation Scanning

DNA Sequencing

7

Difference b/w Mutation Screening and Scanning

Screening: search for a limited # of known muts in a gene
Scanning: scan a gene for all possible muts, can detect both known and unknown muts

8

Allele Specific Oligohybridization (ASO)

Mutation screening method using radiolabeled probe of wt and mut to see which a person has (or both)

9

DNA Sequencing Mech

Put DNA strand and RNA primer in mixture w/ plenty of dNTPs to elongate chain but also rare ddNTP (sequentially). It will stop when it hits the ddNTP and you can see how long that fragment is. After doing all 4 just read to see the order

10

Linkage Analysis (when used and 3 necessary conditions)

Used in rare situations when causative mut can't be detected and genomic localization of gene is known, informative markers are available, and multiple members can be studied

11

10 Things to Ask About For Pedigree

Early deaths
Miscarriages
Intellectual disability/developmental ability
Birth defects
Consanguinity
Genetic disease/early onset disease
Ancestry
Country of origin
Religion
Last Names

12

2 Signs of Autosomal Recessive from Pedigree

Usually seen in single generation of family
Mothers and fathers equally likely to transmit/inherit

13

Signs of XLD

Only females present with it bc usually lethal in males

14

Sign of Incomplete Generation

"Skips" a generation