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Mendelian genetics
As genes are passed down from parent to child, generation to generation, they can
move around on the chromosome and allow for there to be new combinations of genes
and traits that havent been seen before.
Law of segregation
A person has 2 genes for each trait, one from the mother and one from the father.
During gamete formation, the genes can separate and then when fertilization occurs the
individual will receive 1 trait when the genes unite.
Law of independent assortment
each gene pair segregates independently, all possible combinations of genes can occur
in gametes if genes are linked.
Locus
Specific spot on each chromosome where they can have different forms of the same
gene
Polymorphism
-When there are 2 or more alleles that are located at a single locus, or any difference in
DNA sequence among individuals.
-Generally thought to be a mutation but it does not have a huge effect on phenotype.
-This change that can occur in DNA sequence occurs in 1-2% of a population.
,Uniparental disomy/monosomy:
-Disomy refers to when an individual receives both chromosomes from 1 parent.
-Monosomy refers to when there is only ONE chromosome, and there is one missing.
Penetrance
If a mutation occurs for a disease in a gene, this is the probability that a specific gene
will actually be expressed phenotypically, or will show up as a physical characteristic of
the individual.
Multigenic
A trait that is present due to different genes combining and forming new patterns. (skin
color, eye color, height)
Epistasis
A gene interaction in which a pair of recessive genes at one locus prevents expression
of a dominant allele at another locus
Genotype vs phenotype
Genotype: the genetic makeup of an organism
Phenotype: The expressed physical traits of an organism
long and short arms of chromosomes
The short arm: "p"
long arm q.
Autosomal dominant
Autosomal Dominant: This means that the child of a parent will receive the trait if one or
both of the chromosomes are mutated. In many cases this means that a child will
,develop the disease even if only one chromosome is affected.
-affected individuals are not sex realted and they are spread in every generation
Autosomal recessive
For the child to develop a disease or a trait, there must be two abnormal forms or
mutations of a gene, each one passed down from each parent.
-Only in homozygous individuals, inbreeding
Sex-linked:
This means that the trait or mutation is carried by one of the sex chromosome, either X
or Y. Most sex linked mutations are carried on the X chromosome and there are very
few carried on the Y.
-affected individuals are males and the mutant gene is carried by the female
-male
-female
-Affected individuals
-heterozygous for autosomal recessive
-carrier of sex linked recessive
-Death
-Square
-circle
-shaded
-half shaded
-bullseye
-slash
, Consagunity
This means that two individuals that are related in some way breed and have offspring.
Sexual vs asexual organisms recombination
-For sexually: crossing over occurs during meiosis, DNA pieces are swapped between
chromosomes.
-random assortment occurs, chromsomes randomly placed in different gametes
-merging of gametes from each parent
-As for asexual reproduction, the steps for recombination are conjugation, transduction
and transformation.
Linkage
This basically means that two genes are associated together and are passed down
between generations together. So if the genes for red hair and blue eyes were linked
these phenotypes would always be seen together.
Linkage disequilibrium
-Nonrandom association of alleles at linked loci.
-Diminish through time due to recombination
LOD score
-affected by
tests to see if genes will be linked and inherited together.
-greater than 3 than the loci are linked, less than -2 means they are not linked.
Affected by: