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42 Cards in this Set
- Front
- Back
Gene
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Unit of heredity that encodes info for the form of a particular characteristics
-proteins |
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Locus
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The location of a gene on a chromosome
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Homologous chromosomes
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Carry the same kinds of genes for the same characteristics
-Genes for the same characteristic are found at the same loci on both homologous chromosomes |
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Alleles
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-Alternate versions or forms of genes found at the same gene locus
-Each carries two alleles per characteristic, one on each of the two homologous chromosomes |
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Homozygous
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Both homologous chromosomes carry the same allele (gene form) at a given gene locus
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Heterozygous (hybrid)
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Two homologous chromosomes carry different alleles at a given locus
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Gregor Mendel
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-Czech Republic monk in late 1800s
-Botonist and mathematician -Pea plant inheritance experiments (cross-fertilization, observing one trait at a time) |
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Pea plants specifics
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-If homozygous for a particular characteristic, always produce the same physical forms
--Plants homozygous for a characteristic are True-Breeding -Self-fertilize |
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Genetic cross
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The mating of pollen and eggs (from same or different parents)
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Notation for Parental Generation:
First Filial Generation: Second Filial Generation: |
...P
...F1 ...F2 |
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Plant experiments specs
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1. Mendel crossed a true-breeding pruple flower plant with a true-breeding white-flower plant (P)
2. F1 generation consisted of all purple-flowered plants 3. Let F1 self fertilize: F2 had 1/4 white flowers 4. |
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Genotype
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-Particular combination of the 2 alleles carried by an individual
-3 possibilities (PP, Pp, pp) (homo, hetero, homo) |
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Phenotype
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Physical expression of the genotype (e.g. purple flowers)
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How Meiosis Separates Genes
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-Homologous chromosomes separate in meiosis anaphase I
-Each gamete receives one of each pair of homologous chromosomes and thus one of the two alleles per characteristic |
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Mendel’s Law of Segregation
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Separation of alleles in meiosis
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How to bookkeep
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1. Add fractions of any genotypes of the same kind (1/4Pp + 1/4pP= 1/2Pp total)
2. From the sums of all the different kinds of offspring genotypes, create a genotypic ratio 1/4 PP, ½ Pp, ¼ pp is in the ratio 1PP: 2Pp: 1pp |
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Test cross
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Used to deduce the actual genotype of an organism with a dominant phenotype (i.e., is the organism PP or Pp?)
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"Linked gene characteristics"
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-Different gene loci located on the same chromosome tend to be inherited together
-Characteristics whose genes tend to assort together are "linked" -Messes up ratio in independent assortment; recombination increases variability also |
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General thoughts on Mendel system
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Great for very simple situations, however doesn't work as things get more complicated (see
"linked") |
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Autosomes
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Not sex chromosomes
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Genes carried on one chromosome are...
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Sex-linked.
-X is so much larger than Y chromosome; less in men to mask a bad recessive trait in Y |
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X and U have very few genes in common, thus...
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-Females (XX) can be homozygous or heterozygous for a characteristic
-Males (XY) have only one copy of the genes on the X and Y |
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Sex-linked (specifically X-linked) recessive alleles display their phenotype ___ often in males
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More
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Assumptions drawn from Mendel's Rules
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–All genes are governed by alleles found at a single locus on a pair of homologous chromosomes
–There are two alleles (gene forms) for each characteristic or gene type –One allele is dominant over the other, which is recessive |
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Incomplete dominance inheritance pattern
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-When the heterozygous phenotype is intermediate between the two homozygous phenotypes
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Multiple Allelism
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-Thousands of alleles for eye color in fruit flies, producing white, yellow, orange, pink, brown, or red eyes
–Human blood group genes producing blood types A, B, AB, and O --Three alleles in this system: A, B, and O |
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Codominance
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-Some alleles are always expressed even in combination with other alleles
--Heterozygotes display phenotypes of both the homozygote phenotypes |
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Polygenic inheritance
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-Genes governed by the interaction of more than two genes at multiple loci
-Human skin color is controlled by at least 3 genes, each with pairs of incompletely dominant alleles |
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Pleiotropy
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-Alleles of a characteristic may create multiple phenotypic effects
-Cascading effect |
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Pedigree
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-Careful analysis of the diagram of records of gene expression over several generations of a family
-Reveals inheritance pattern of a trait |
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Heterozygous individuals are _____ of a recessive genetic trait (but otherwise have a normal phenotype)
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carriers
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Tyrosinase
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enzyme that produces melanin
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Sickle-cell Anemia
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-A mutant hemoglobin gene causes hemoglobin molecules in blood cells to clump together
-Homozygous carriers face great difficulties -Heterozygous carriers have great resistance to malaria, however |
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Dominant Genetic Disorders
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-Affects heterozygous carriers as well, 50% in kids
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How dominant disease alleles disrupt normal cell functions:
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-Produce an abnormal protein that interferes with the function of the normal one
-Encode toxic proteins -Encode a protein that is overactive or active at inappropriate times and places |
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Sex-linked disorders
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appear more frequently in males and often skip generations
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Non-disjunction
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Incorrect separation of chromosomes or chromatids in meiosis
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Turner Syndrome
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(XO): an underdeveloped, infertile woman with only one X chromosome
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Trisomy X
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(XXX): a fertile, “normal” woman with an extra X chromosome
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Kleinfelter Syndrome
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(XXY): an infertile man with an extra X chromosome, having partial breast development and small testes
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XYY Male
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a tall man with an extra Y that produces high levels of testosterone and may score lower on IQ tests
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Trisomy 21
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(Down Syndrome) is an example of an abnormal autosomal number
-Down syndrome individuals have three copies of chromosome 21 |