Genetic Variation Flashcards Preview

Fundamentals of Molecular Medicine > Genetic Variation > Flashcards

Flashcards in Genetic Variation Deck (25):
1

 

 

 

How many Haploid BP in the Human Genome

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2

What is the current best estimate of number of genes in the human genome?

5000

10,000

15,000

30,000

100,000

 

 

 

30,000

3

 

 

 

How does Phenotypic Variation Arise?

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Exome

 

 

 

sum of all the exons. 

5

 

 

 

Biggest sources of variation

 

 

 

DNA Replication Errors and Meiosis.

6

 

 

 

DNA Replication Errors

 

 

 

DNA Replication Errors is the source of variation that Darwin spoke of

7

On average how many polymorphic differences would yo find if you compared the genomes of two randomly chosen humans?

1 Million

1000

10,000

100,000

10 Million

 

 

 

1 Million (1 Million/23 Chromosomes) 

8

 

 

Which will give you better polymorphism screens? DNA polymorphisms screens or Protein Polymorphism screens?

 

 

 

DNA Polymorphism Screens

9

 

 

 

Interim Summary: Types of DNA Polymorphisms

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10

 

 

Which of these is the most automatable of the polymorphisms?

 

 

 

SNPs are Binary and that has revolutionized medicine because we can use binary computer code (1’s and 0’s). 

11

 

 

 

How many base pairs differentiates human beings from one another?

How many polymorphisms?

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12

 

 

 

RFLP Detection

 

 

Result from DNA sequence differences that occur at restriction sites in the human genome. The locations of these sites are found by hybridizing restriction fragments with cloned probes. 

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13

VNTR polymorphisms are detected on the basis of differences in 

Number of G Nucleotides

Secondary Structure

Number of Histones

Number of Promoter Sequences

Molecular Weight 

 

 

Molecular Weight (Because one will have more repeats than the other we can separate them based on the molecular weights) 

14

 

 

STRP or VNTR

STRP -- Microsattellite Repeats

VNTR -- Minisatellite Repeats

 

 

Tandem repeats consisting of short segments of DNA (microsatellites) or somewhat longer segments (minisattellites whose length can be14 to 500 bps) that are repeated over and over in tandem.

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CNV

 

 

CNV represents differences in Larger Segments of DNA (bp's > 1000 to 2 million bp)

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SNP's

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17

 

 

 

How Can Do we Detect Tandem Repeat Polymorphisms

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18

 

 

 

Function of PCR

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19

 

 

 

Explain Next Gen Sequencing

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20

 

 

 

Defining Variability in Individual Genomes

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21

 

 

 

 

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All of the above

22

 

 

 

Explain Snip Chips

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23

 

 

 

Visualizing SNP CHIP

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24

 

 

 

What are causes of Genetic Variation in Populations

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25

 

 

 

Summary of Key Points

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