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Mendelian genetics
It was discovered that about 85 percent of the human population possessed a
blood cell protein that had been previously detected in Rhesus monkeys. This
blood type was labeled Rh positive, and Rh+ was found to be dominant over the
absence of the blood factor (Rh-). Based on normal Mendelian inheritance, which
of the following statements are correct?
a) Two Rh+ parents could not have an Rh- child.
b) Two Rh- parents could have an Rh+ child.
c) An Rh- child would require that both parents be carriers of at least one Rh-
gene.
d) It is possible with just one pair of parents to have children where some siblings
are Rh- and some are Rh+
e) all of the choices are false.
,c & d are true, the rest are false
Recombination:
In sexually reproducing organisms...
- Crossing over in meiosis
- Random assortment into gametes
- Recombination at ferilization
Recombination:
In asexual reproduction
- Conjugation
- Transduction
- Transformation
Genetic Linkage
The existence of several alleles on the __________ ____________.
same chromosome.
Haplotype
- Linkage of alleles on a single chromosome
- Tend to be inherited together
- If crosing-over occurs between two linked alleles of interest, a dihybrid produces four
types of gametes instead of two
- The percentage of recombinant phenotypes can be used to map chromosomes
,A longer distance between two genes will _________ the chances of crossing
over.
increase
Short arm of chromosome is denoted by the letter ___
p
Linkage analysis
Neurofibromatosis type 1 has ____ mutation and is typed for ____ polymorphism.
NF1 & IF1O
You know recombination has occurred when looking at a pedigree when _______.
When an affected individual has a different haplotype than the other affected individuals
and/or when an unaffected individual has the same haplotype as the affected
individuals.
LOD score
Determines the significance of linkage results.
LOD =
Log (likelihood of linkage at given recombination frequency/likelihood of no linkage)
LOD > 3 means
2 loci are linked
LOD -2
No linkage
, Penetrance:
Probability that a gene will have any phenotypic expression at all.
Affects the LOD score.
Reduced penetrance:
the frequency of expression of a phenotype is less than 100%
Linkage disequilibrium:
-Nonrandom association of alleles at linked loci.
-Diminish through time due to recombination.
-Can be used to infer the order of genes on chromosomes.
Multigenic:
Examples:
a trait is governed by a combination of multiple genes
skin color, eye color, height
Epistasis:
a gene at one locus interferes with the expression of a gene at a different locus
Hardy-Weinberg Distribution
Equations
p+q=1