chapter 5 Flashcards

1
Q

what are syntenic genes and how can they produce recombinant chromosomes

A

syntenic genes are genes on the same chromosome

alleles of syntenic genes can be reshuffled when crossing over occurs to produce recombinant chromosomes

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2
Q

linked genes and how do their alleles sort

A

syntenic genes that are close together, there alleles cannot sort independently

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3
Q

genetic linkage mapping and how can linkage be estimated

A

plots the positions of genes and their relative distances from each other on chromosomes

estimated by considering phenotypic ratios in offspring

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4
Q

what does independent assortment (dihybrid cross) predict

A

each type of gamete will have a frequency of 25%

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5
Q

how do linked genes assort

A

they do not assort independently

-parental phenotypes are more common than recombinant phenotypes when genes are linked

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6
Q

complete vs incomplete genetic linkage

A

complete: all gametes contain parental chromosomes (50% and 50%)

incomplete: parental gametes are 60% and recombinant gametes are 40% for these genes

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7
Q

recombination frequency formula

A

r = (# of recombinants)/(total # of progeny)

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8
Q

what is recombination frequency positively correlated to

A

physical distance between 2 genes on a chromosome (the larger the distance, the larger the recombination frequency)

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9
Q

recombination frequency max value and why

A

max: 0.5 (50%)

why? 50% frequency of non parental phenotypes represents inheritance through mendel’s laws (if each phenotype is equal = looking at unlinked genes)

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10
Q

How to tell/quantify if there is chance for genetic linkage?

A

-if genes are close together on chromosome = rare chance of recombination, short genetic distance

-if genes are far apart on chromosomes, large genetic distance, lots of recombination/large amount of recombinant offspring

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11
Q

crossing over timeline (Morgans Crossing over hypothesis)

A
  1. beginning of prophase 1: Homologous chromosomes normal
  2. early prophase 1: synaptonemal complex formation (ready to cross over)
  3. end of metaphase 1: crossover completed
  4. end of telophase 2: gamete formation, 4 gametes, creates parental and non parental gametes after segregation
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12
Q

Two-point test-cross analysis

A

gene linkage of autosomal genes can be interpreted this way, since homozygous recessive parent contributes only recessive alleles - the alleles from the dihybrid parent can be examined

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13
Q

what is genetic linkage

A

a physical relationship among genes located near one another on a chromosome

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14
Q

how often does recombination occur in linked genes

A

less than 50% of the time, more than 50% of the gametes contain parental allele combination

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15
Q

how does recombination frequency vary among linked genes

A

in proportion to distance between them

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16
Q

First genetic linkage map and units

A

Alfred Sturtevant realised variations in recombination frequency could be used to determine genetic maps for genes

map units (m.u)
% recombination
centimorgan (cM)

17
Q

in most experiments, the number of observed double crossovers is _ than expected

how to find the expected double crossover frequency

A

less

it is the product of 2 single-crossover frequencies (multiply both lengths)

18
Q

what is interference and how do you find it

what is c

A

the reduction in observed double recombinants compared to expected

interference = 1 - c (coefficient of coincidence)

c= observed double recombinants (add both smallest values from given data)/expected double recombinants

this interference value tells you the number of double recombinants is (I) lower than expected

19
Q

negative interference (I)

A

I<0 because some genomic regions can produce more double recombinants than expected

20
Q

genetic markers (used for human genetic analysis)

A

human genomic sequences that are polymorphic and used for genetic analysis

  • we are able to locate genetic markers that are linked to alleles that determine phenotypic variation
    -genetic markers can easily be analyzed from a DNA sample
    -they link new gene mutations to already known markers
21
Q

does recombination frequency accurately show actual distance between genes

A

Underestimates Actual
Distance Between Genes

22
Q

ways/reasons that recombination rates vary

hotspots/coldspots

A

Recombination happens more frequently in recombination
hotspots

Recombination happens less frequently in recombination cold spots

influenced by environmental factors
* In Drosophila, recombination occurs more often in younger females
* Temperature also affects recombination rate

Mutations:
* Chromosomal inversions often suppress recombination due to lack of homology

Natural selection:
* Some life forms have higher rates of recombination than others
* High rates of recombination may be adaptive

23
Q

exception: Recombination rates are not always proportional to
physical distance between genes

A

YEAST Physical genetic distances of genes in yeast based on sequencing
compared to traditional genetic distances through recombination mapping

spo7 and cdc15 appear further apart physically than their genetic distance suggests, implying a recombination cold spot.

cdc15 and FLO1 appear physically closer than their genetic distance suggests, implying a recombination hot spot.

Implications: Some regions undergo more recombination than expected (hot spots), while others recombine less frequently (cold spots), affecting genetic mapping accuracy.

in HUMANS, genome wide recombination rate is lower in males than females
* This results in a smaller genetic map in males, even for autosomal chromosomes where physical distances are the same

24
Q

where are genetic markers found in humans? and what are they used for?

A

non-coding regions of the genome

Used as markers to tag genomic regions of interest for association studies

25
what are VNTRs (genetic marker)
variable number tandem repeats * Short sequences of DNA, usually 3-20 bp * Can be amplified by polymerase chain reaction and separated on agarose gel for genotyping * Inheritance of VNTRs can be analyzed in a pedigree and these VNTRs show a codominant relationship - do this instead of sequencing entire genotype
26
RFLP (genetic marker)
restriction fragment length polymorphisms variable DNA sequences that are detected when extracting DNA and digesting it with restriction endonucleases (restriction enzymes) * The number and length of DNA fragments vary across individuals at specific genomic regions * Often VNTRs are RFLP markers * VNTRs when digested with restriction enzyme produce variable fragments * RFLPs, like VNTRs, are visualized on agarose gels - don't sequence entire gene, just look at simple association
27
SNPs (genetic marker)
single nucleotide polymorphisms More commonly used * E.g. 23andme uses SNPs for their analyses of your genome Single nucleotide at a specific position that is variable among populations * Some may be found in coding regions and affect the expressed protein * Most are in non-coding regions and used for analyzing genetic similarity * E.g genealogy construction -specific single base pairs that vary between ppl and can be associated to disease phenotypes
28
Associations/Use of using genetic markers
Often disease-causing genes are identified by identifying linked polymorphism For example, the disease-causing allele D might be frequently associated with SNPs A1 B By analyzing disease-causing genes in patients and healthy individuals, associations between genetic markers and disease can be made
29
Genetic markers are only reliable if they are:
very close to a gene of interest (If close enough, recombination separating the marker and allele of interest is unlikely)
30
haplotypes
A series of linked SNPs on a specific chromosomal region are called
30
23andme
the most popular DNA-testing service for ancestry, disease associations, and other traits * You submit a DNA sample to the company in the mail and they analyze a number of genetic markers (mostly SNPs) * ~ 60 000 SNPs selected by 23andme -analyze SNPs between ppl, primers amplify specific SNP area