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Meiosis in Drosophila
Cross over only occurs in female flies
Linkage of genes
shown by genes on the same chromosome
when offspring numbers don’t match independent assortment ratio
Independent Assortment of genes
shown by genes on different chromosomes
50% recombination frequency
Linkage Group
group of genes on the same chromosome
number of these linkage groups should correspond to the haploid number of chromosomes
drosophila= 4 linkage groups
Law of Independent Assortment
Each possible gamete is equally likely (1:1:1:1)
Alleles segregate independently of each other when forming gametes
AaBb x aabb→ ¼ AaBb ¼ Aabb ¼ aaBb ¼ aabb
Complete linkage
When two genes that are in close proximity are mated, no independent assortment occurs and all the offspring will have a parental combination of alleles
Only parental (noncrossover) gametes are produced
AaBb x aabb→ ½ AaBb ½ aabb
Crossing over between two linked genes occurs between two nonsister chromatids
Both parental (noncrossover) and recombinant (crossover) gametes are produced
Proportion of parental to nonparental gametes will depend on the distance between the linked genes
% recombination = map unit distance
Interlocus distance or Map Units
distance between two loci on a single chromosome
proportional to the degree of crossing over
Chiasma
point of genetic exchange (crossing over)
created by synapsed chromosomes in meiosis that wrap around each other
less likely to form between two genes that are relatively close to each other
Double crossovers (DCOs)
used to determine the order of 3 genes on the chromosome
Single crossovers
used to determine the distance between 2 linked genes
3 criteria of three-point mapping
parent must be heterozygous for all three genes under consideration
phenotypic class must reflect genotype of gametes of parents
sufficient number of offspring must be produced for representative sample
Noncrossover F2 Phenotypes
occur in the greatest proportion of offspring
(largest offspring numbers)
Double-crossover F2 Phenotypes
occur in the smallest proportion of offspring
(lowest offspring numbers)
Reciprocal classes of phenotypes
When F2 phenotypes complement each other (ex. one is wild type and the other is mutant for all three genes)
Interference (I)
I = 1-C
Positive Interference= fewer DCO events than expected occur
Negative Interference= more DCO events than expected occur
Coefficient of coincidence (C)
the observed number of DCOs divided by the expected number of DCOs
expected frequency= multiply the recombination frequencies
Lod score analysis
relies on probability calculations to demonstrate linkage between two genes in organisms in which linkage analysis relies primarily on pedigrees.
This analysis is limited by the availability of pedigree data
Somatic cell hybridization
involves fusion of two cells in culture to form a single hybrid cell, called a heterokaryon.
Upon continued culturing of the hybrid cell, chromosomes from one of the two parental species are gradually lost until only a few chromosomes of one species remain and most chromosomes are from the other species, creating a synkaryon.
Synteny testing
A panel of cell lines, each containing just a few human chromosomes
the presence or absence of a specific gene product is correlated with the presence or absence of each chromosome
DNA markers
Short segments of DNA with known sequence and location
Map landmarks along the chromosome.
Recombination frequency is the basis for genetic maps.
Actual base-pair distance represents a physical map.
We can correlate inheritance of traits like diseases to inheritance of markers - indicating they are linked (located near each other)
RFLPs: Restriction fragment length polymorphisms
Polymorphic sites
Generated when specific DNA sequences are recognized and cut by restriction enzyme
Microsatellites
Short repetitive sequences
Found throughout genome
SNPs: Single-nucleotide polymorphisms
Found throughout genome
Used by geneticists to identify and locate related genes
Often used in forensics analysis
Used to screen for diseases
Example: Cystic fibrosis
Mapping cross requirements with Drosophila
require female flies that are heterozygous for the genes to be mapped and male flies homozygous for the recessive allele of the genes
Drosophila Experiment Parental Generation
homozygous mutant females y w m / y w m
red, tan, long
x
homozygous wildtype males + + + / — (Y)
white, yellow, mini
Drosophila Experiment F1 Generation
heterozygous females + + + / y w m
x
homozygous recessive males y w m / — (Y)
Recombinant phenotypes for body color and eye color
yellow red & tan white
Recombinant phenotypes for body color and wing length
yellow long & tan mini
Recombinant phenotypes for eye color and wing length
white long & red mini
Population
a group of individuals with a common set of genes that lives in the same geographic area and can or does interbreed
Population’s Gene Pool
all of the alleles present in that population
due to population dynamics, the gene pool can change over time
Hardy-Weinberg Law predictions
the frequency of the alleles in the gene pool does not change over time (p+q = 1)
after one generation of random mating, the genotype frequencies for two alleles can be calculated as p2 + 2pq + q2 = 1
p
frequency of dominant allele A
q
frequency of recessive allele a
p2
frequency of AA genotype (homozygous dominant)
q2
frequency of aa genotype (homozygous recessive)
2pq
frequency of Aa genotype (heterozygous)
Key assumptions for Hardy-Weinberg equilibrium
no natural selection
no mutation
no migration
population is infinitely large
random mating
Predictions based on H-W equilibrium
Dominant traits do not necessarily increase from one generation to the next
Genetic variability can be maintained
By knowing frequency of one genotype, frequencies of other genotypes can be calculated
Natural Selection
Major force driving allele frequency change
Chief mechanism for transforming populations
Principal force that shifts allele frequencies within large populations
Genetic Drift
Significant random fluctuations in allele frequencies in small populations
Possible by chance alone
Degree of fluctuation increases as population size decreases
Can also occur as result of: Founder effect and Genetic bottleneck