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genetics > chapter 5 part 2 > Flashcards

chapter 5 part 2 Flashcards

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Biology 101 flashcards
1
Q

what facilitated human genome mapping efforts

A
  • methods to identify polymorphic DNA sequences
  • improved gene-mapping software
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2
Q

genetic markers

A

polymorphic DNA sequences

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3
Q

the availability of large numbers of DNA markers on each chromosome led to the identification of __________ ___________

A

linkage groups

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4
Q

linkage groups

A

clusters of systemic genes that are linked to one another

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5
Q

what constitutes the genetic markers used to study locations of a gene

A

different variants of a DNA sequence

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6
Q

where are genetic markers typically found?

A

noncoding regions of the genome

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7
Q

3 types of genetic markers

A
  1. variable number tandem repeats
  2. single nucleotide polymorphisms
  3. restriction fragment length polymorphisms
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8
Q

how long are VNTRs

A

short DNA sequences - 3-20 bp

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9
Q

where do VNTRs repeat

A

end-to-end in a chromosomal region

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10
Q

how long are SNPs

A

1 bp

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11
Q

what are SNPs

A

variants where one base pair is substituted by another base pair

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12
Q

how many SNPs in human genome

A

3.3 million

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13
Q

RFLPs

A

changes in DNA sequence that are detected using DNA-cutting enzymes restriction endonucleases/enzymes

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14
Q

restriction fragments

A

pieces of DNA resulting from restriction enzyme cutting

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15
Q

haplotype

A

specific array of SNPs in a small region on a single chromosome

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16
Q

haplotype SNP behavior during meiosis

A

SNPs closely linked, will be passed on together during meiosis

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17
Q

allelic phase

A

arrangement of alleles of linked genes on parental chromosomes

18
Q

what does LOD score analysis compare

A

likelihood of obtaining genotypes/phenotypes observed in linked genes versus unlinked

19
Q

what does LOD stand for

A

logarithm of odds ratio

20
Q

formula for LOD score

A

log(10) = likelihood of being linked/likelihood of not being linked

21
Q

theta values

A

recombinant frequencies

22
Q

theta =

A

map units

23
Q

theta = 0.1

A

10 m.u.

24
Q

theta = 0

A

complete linkage

25
Q

theta = 0.5

A

not linked - independent assortment

26
Q

what does a LOD score of 3 or higher mean

A

in favor of linkage at theta value

27
Q

what does a LOD score of -2 or lower mean

A

against genetic linkage

28
Q

LOD scores between -2 and 3

A

inconclusive

29
Q

Zmax

A

indicates recombination frequency most likely to be correct

30
Q

what does GWAS stand for

A

genome-wide association studes

31
Q

GWAS

A

detects and locates genes that influence traits as a group of multiple genes

32
Q

what does GWAS identify

A

where in genome the genes influencing a single trait are located

33
Q

what does GWAS look for associations between

A

traits and groups of alleles in populations

34
Q

what genetic markers are typically used for GWAS

A

SNPs

35
Q

how are GWAS results represented

A

Manhattan plot

36
Q

how to interpret Manhattan plot

A
  • bars show locations of genes contributing to traits
  • higher the green bar, the stronger the association between a potential contributing gene and a chromosomal location
37
Q

linkage disequilibrium

A

when frequencies of haplotypes deviate from what is expected

38
Q

does disequilibrium reflect random or non-random relationships between alleles of closely linked genes

A

non-random

39
Q

what does disequilibrium indicate

A

that things are linked - only way you can separate is by crossovers

40
Q

does nonrandom and disequilibrium mean that the gene we are studying is associated to the SNP haplotype?

A

yes - closely associated

41
Q

what happens when linkage disequilibrium is found in a SNP haplotype

A

all genes located in that chromosome region must be identified

42
Q

ex. of investigating GWAS results

A
  • CARD15 gene suggested to be associated with Crohn’s disease (NOD2)
  • allies associated with CD increased inflammatory response

genetics (47 decks)

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