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AP Biology

Chapter 10 & 15 - heritary & chromosome abnormalities, guided notes & definition

Heredity Transmission of genetic information from parent to offspring
Genetics The science of heridity
Genetic variation Differences, between parents and offspring
Phenotype The physical appearance of an organism
Traits Heritable differences
Alleles The alternative forms of a gene
Genes Hereditary factors
Locus A segment of the DNA that has the information for controlling some aspect of the structure or function of the organism
Genotype Genetic constitution of an organism, mostly expressed by symbols
Mendel's principle of segregation says that before sexual reproduction occurs, the 2 alleles carried by an individual parent must become separated
Punnett square A grid showing the possible combinations of eggs and sperm at fertilization
Mendel's principle of independent assortment States that members of any gene pair segregate from on another independently of the members of the other gene pairs
How does the "blending hypothesis" differ from the "particulate hypothesis" for the transmission of traits? They were cross pollinated true breeding parents.
What are a few of the advantages of Mendel's choice of the garden pea as a model organsim? They were available in many varieties with heritable features; Each pea plant has male and female structures; pea plants can self-fertilize; Mendel could cross polinate; simple genetically; gene had 2 alleles, one dominant to other
Define the Law of Segregation. Before sexual reproduction occurs the 2 alleles carried by an individual parent must become separated.
How does the Law of Segregation, in the pea plants, apply to the F1 and the F2 generations? (blank)
When does the segregation of alleles occur? Meiosis 1
What is the difference between an allele and a gene? Alleles are genes governing the variation of the same character that occupy corresponding positions on homologous chromosomes.
What is the difference between an allele and a gene? Genes are a segment of DNA that serves as a unit of hereditary information.
Homozygous Having a pair of identical alleles for a particular locus.
Heterozygous Having a pair of unlike alleles for a particular locus.
Phenotype The physical or chemical expression of an organisms genes.
Genotype The genetic makeup of an individual.
What is the purpose of a test cross? Determines the indentity of the unknown allele.
When 2 traits are on different (non-homologous) chromosomes, how are they inherited? (blank)
Use the rules of probability to determine the expected ratio of offspring showing 2 recessive traits in the trihybrid cross (PpYyRr X Ppyyrr). (blank)
Describe and give an example of incomplete dominance. Yr mixing with a YR. The YR is more dominant.
How does codominance compare to incomplete dominance? Incomplete dominance does not have complete power of what a child will look like.
How is blood type an example of multiple alleles? It takes a combination of alleles to make up your blood type. Example O = ii and AB = IA IB
What is pleiotrophy? When one gene affects more than one phenotypic character. Example: dwarfism, gigantism, sickle cell anemia, and cystic fibrosis
Define and give and example of epistasis. When one gene makes another. Example = albinism
What is observed when traits are polygenic? The offspring of a person has a greater chance of having lighter of darker skin color depending if the parents had a genotypes with more AABBCC than aabbcc. Polygenic traits include height, eye color, intelligence.
The expression of phenotypes is often a result of both environment and genes.
Genetic disorder that results from defective ion transport. Cystic Fibrosis
Genetic disorder that results from abnormal lipid metabolism in the brain. Tay-Sachs
Genetic disorder that results from a hemoglobin defect. Sickle cell anemia
Genetic disorder that has an autosomal dominant inheritance pattern that is a common cause of dwarfism in which a mutation causes an abnormality of cartilage formation. Achondroplasia
Genetic disorder that has an autosomal dominant inheritance pattern and causes mental and physical deterioration. Huntington's disease
How can a parent learn the risks of having a child with a genetic disorder? A genetic counselor can help parents understand their situation and give them the probability of their child inheriting a particular condition.
Describe some of the pieces of information that scientiests discovered that contributed to the "Chromosome Theory of Inheritance"? Experimental evidence from improved microscopy and animal breeding led us to a better understanding of chromosomes and genes beyond Mendel.
Summarize the Chromosomal Theory of Inheritance. How you can predict what the offspring will look like based on the parents genetic code.
Why was Thomas Hunt Morgan's choice of the fruit fly a good model organism? Because it was prolific, 2 week generations, 4 pairs of chromosomes XX=female, XY=male
Describe Morgan's first mutant. Why was it so significant from the wild type? It had white eyes and it was unusual because the wild flys normally have red eyes.
Show the cross P, F1, F2 for the white-eyed male mutant. Red eye female X White eye male → all red eye offspring → 75% red eye female X 25% white eye male
What happens when we trace the inheritance of traits found on the same chromosome? You can trace how the offspring got certain trait - linkage occurs
What is recombination and when does it occur? The process that leads to new gene combinations. It occurs whenever gametes come together.
How is recombination frequency calculated? 1. Add the number of individuals in the 2 recombinate classes of offspring 2. Divide by the total number of offspring 3. Multiply by 100
What determines sex in humans? Chromosomes. XX = Female, XY = Male
In what ways are sex-linked traits distinct from autosomal traits? 22 Pairs of autosomal traits and 2 sex chromosomes.
Why are sex-linked recessive traits more common in human males than females? Male X-linked alleles are hemizygous. They only need one recessive allele to be expressed.
How many X chromosomes are typically expressed in humans and cats? 2 X Chromosomes
How many Barr bodies would be found in a person with: XXY____ XO___ XXX____ (blank)
Define aneuploidy and when does it occur? Any chromosomal aberation in which there are either extra or missing copies of certain chromosomes. It occurs during meiotic (or rarely mitotic) division when chromosomes fail to separate.
What is polyploidy and when does it occur? The condition of having more than 2 sets of chromosomes per nucleus. It occurs when chromosomes don't separate during miosis or from the fertilization of an egg by more than one sperm.
Describe the non-disjunction Down Syndrome. Has varying degrees of mental retardation, short stature, cardiac deformities, mostly found in children whose mother is +35.
Describe the non-disjunction Edwards Syndrome. Ear deformities, heart defects, and spasticity, usually die by age 1.
Describe the non-disjunction Patau Syndrome. Multiple defects, usually dies by 3 months old.
Describe genomic imprinting and give an example. The expression of a gene in a given tissue or developmental stage is based on its parental origin. An example would be a person inherits Prader-Willi Syndrome from their father and a person inherits Angel-man Syndrome from their mother.
Created by: crescenti