Unit 3 Exam lecture 19 Flashcards

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1
Q

What is the difference between a physical map and a genetic map

A

Genetic map = linkage map

Physical map = individual nucleotide sequence that makes up entire chromosome

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2
Q

What are areas of the human genome that we have not fully sequenced

A

centromere regions and telomere regions due to lots of repeats, dont know exactly how many repeats there are

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3
Q

Process of map based sequencing

A
  1. partial digestion of DNA
  2. large insert clones are anylized for markers or overlapping sites
  3. allows assembly into a contig
  4. subset of overlapping clones that cover entire chromosome are selected and fractured and their pieces are cloned
  5. each small insert clone is sequenced and then used to overlap and assemble final sequence
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4
Q

What is the take home of map based sequencing

A

that it is a laborious process

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5
Q

What accounts for most of the variation in human genomes

A

SNPs

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6
Q

what is the frequency if SNPs

A

1 SNP every 1000 bps

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7
Q

What is a haplotype

A

a combination of SNPs that are inherited together

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8
Q

More haplotypes indicate

A

more genetic diversity

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9
Q

less haplotypes indicate

A

less genetic diversity

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10
Q

As you get more people and start to see individuals sharing the same haplotype what do you look for

A

similarities in their phenotypes

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11
Q

Linkage disequilibrium is what

A

the nonrandom association between genetic variants within a haplotype

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12
Q

Low recombination indicates what about LD and the alleles

A

High LD and association between alleles is not random

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13
Q

High recombination indicates what about the LD and the alleles

A

Low LD and do not see association between alleles at different positions in the genome

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14
Q

Why do we care about LD

A

ability to pinpoint a specific allele that might be making someone sick is almost impossible with high LD

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15
Q

Lots of haplotypes indicate what about LD

A

that LD is low

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16
Q

few hapoltypes indicate what about LD

A

that LD is high

17
Q

what is GWAS

A

approach to determine link between phenotype and genotype

18
Q

What does a large green line indicate on a GWAS

A

that there is a high correlation between genotype and phenotype of SNP in that one region

19
Q

Functional genomics looks at what

A

characterizing what sequences do, specifically looking at transcriptome

20
Q

How are model organisms associated with functional genomics

A

model organisms can be used to see how genomes are different between different species

21
Q

How can you use related models to infer homology

A

if you know what gene A does in species X, and you see Gene B in species Y is similar to gene A then you are able to infer what that Gene B does in related species

22
Q

What do microarrays allows for

A

allow you to generate data on differences in gene expression

23
Q

What do microarrays target

A

expression of mRNA using probes

24
Q

The DNA probe in microarrays are specific to what

A

specific genes (like a long primer that is specific to gene)