Unit 3 Exam lecture 19

Question 1

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

Answer 1

Genetic map = linkage map

Physical map = individual nucleotide sequence that makes up entire chromosome

Question 2

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

Answer 2

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

Question 3

Process of map based sequencing

Answer 3

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

Question 4

What is the take home of map based sequencing

Answer 4

that it is a laborious process

Question 5

What accounts for most of the variation in human genomes

Answer 5

SNPs

Question 6

what is the frequency if SNPs

Answer 6

1 SNP every 1000 bps

Question 7

What is a haplotype

Answer 7

a combination of SNPs that are inherited together

Question 8

More haplotypes indicate

Answer 8

more genetic diversity

Question 9

less haplotypes indicate

Answer 9

less genetic diversity

Question 10

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

Answer 10

similarities in their phenotypes

Question 11

Linkage disequilibrium is what

Answer 11

the nonrandom association between genetic variants within a haplotype

Question 12

Low recombination indicates what about LD and the alleles

Answer 12

High LD and association between alleles is not random

Question 13

High recombination indicates what about the LD and the alleles

Answer 13

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

Question 14

Why do we care about LD

Answer 14

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

Question 15

Lots of haplotypes indicate what about LD

Answer 15

that LD is low

Question 16

few hapoltypes indicate what about LD

Answer 16

that LD is high

Question 17

what is GWAS

Answer 17

approach to determine link between phenotype and genotype

Question 18

What does a large green line indicate on a GWAS

Answer 18

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

Question 19

Functional genomics looks at what

Answer 19

characterizing what sequences do, specifically looking at transcriptome

Question 20

How are model organisms associated with functional genomics

Answer 20

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

Question 21

How can you use related models to infer homology

Answer 21

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

Question 22

What do microarrays allows for

Answer 22

allow you to generate data on differences in gene expression

Question 23

What do microarrays target

Answer 23

expression of mRNA using probes

Question 24

The DNA probe in microarrays are specific to what

Answer 24

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