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Genetics - OWR
Concepts 1 - 4
| Question | Answer |
|---|---|
| What is a Gene? | Section of DNA that provides the instructions for making a protein. Because a gene is a piece of a chromosome , we have two copies of instructions to make every protein in our bodies. |
| What are Alleles? | Different versions of the same gene. We inherited a full set of chromosomes (containing genes) from each of our parents, but we may not have inherited the same version of every gene. |
| What are Homologous Chromosomes? | The matching chromosomes from our mom and dad. They contain the same genes in the same locations, but may contain different alleles. |
| Who is Gregor Mendel? | Austrian monk who used pea plants to learn about genetics. He is known as the "Father of Genetics". |
| Alleles have assigned letters. What are they? | Uppercase for dominant (A) and lowercase for recessive (a). |
| What are Homozygous Alleles? | 2 of the SAME alleles (AA or aa) |
| What are Heterozygous Alleles? | 2 DIFFERENT alleles (Aa) |
| What is the Law of Dominance? | A dominant (strong) allele will express itself over a recessive (weak ) allele. |
| What is a Dominant Trait? | If present, allele will always have that trait expressed (seen). |
| What is a Recessive Trait? | Allele will only have that trait expressed (seen) when the dominant allele is NOT present. |
| What is a Genotype? | The actual alleles inherited (genes that coexist for flower color such as FF, Ff, or ff). |
| What is a Phenotype? | The physical traits/characteristics seen in an organism (purple flowers). |
| What is Law of Segregation? | When chromosomes separate in meiosis, each gamete (egg or sperm) will receive only one chromosome from each pair. |
| What is Law of Independent Assortment? | The assortment of chromosomes for one trait doesn't affect the assortment of chromosomes for another trait. This allows for any combination of maternal and paternal chromosomes to be passed on b/c homologous chromosomes line up randomly during metaphase. |
| What are Punnett Squares? | A diagram that shows the probability of inheriting traits from a parents with certain genes. |
| What is a Monohybrid Cross? | A cross between two organisms looking at ONE trait. |
| What is a Dihybrid Cross? | Used when finding the possible genotypes for offspring when considering two traits at the same time. |
| What is probability used to determine? | The possibility of getting a specific genotype. Especially helpful when looking at more than TWO genes at a time. |
| What is the Chromosome Theory of Inheritence? | Genes are located on chromosomes and the behavior of chromosomes during meiosis accounts for inheritance patterns. |
| What are the exceptions to Mendel's Laws? | Some alleles are neither dominant nor recessive, and many traits are controlled by multiple alleles or multiple genes. |
| What is Incomplete dominance? | The heterozygous phenotype is somewhere between the two homozygous phenotypes. Neither allele is completely dominant or recessive. |
| What is codominance? | Both traits are fully and separately expressed. Examples - Red and white flowers make red and white speckled flowers; AB blood type is fully A and fully B. |
| What is an example of codominance AND multiple alleles? | Codominance: blood type AB is fully A and fully B. Multiple alleles: A, B, and i |
| What are Multiple Alleles? | Having more than TWO alleles for one gene (Alleles for blood type - A, B, i) |
| What is Polygenic Inheritance? | A trait produced by two or more genes. Usually shows a RANGE in phenotype. Examples include skin color, eye color, height, personality. |
| What is epistasis? | When one gene overshadows all of the others. Examples include Labrador retriever fur colors, eye color. |
| What are linked genes? | Genes that are physically located on the same chromosome will be inherited together. Examples include blonde hair AND blue eyes; red hair AND freckles. Linked genes can only be separated or broken apart during crossing over. |
| What are autosomes? | Males and females have exactly the same chromosomes for pairs 1-22. |
| What are sex chromosomes? | The last pair of chromosomes and determine the biological sex of the individual. Females have XX and males have XY. |
| What are sex-linked genes? | Genes on sex chromosomes. If on the X, they are X-linked. If on the Y, they are Y-linked. The X chromosome contains MANY genes that affect MANY traits. The Y chromosome carries FEW genes. |
| What are X-linked genes? | Females inherit X-linked genes as normal and principle of dominance applies. This is because females have 2 X's, so they inherit two copies of the gene. |
| What is a carrier? | Someone who carries the recessive trait, but doesn't show it due to having a dominant X to mask it. |
| Do males inherit the gene on the X or the Y? | Males inherit the gene on the X, but not the Y. Because they only have 1 X, they express that trait whether it is dominant or recessive, because the Y doesn't mask it. |
| What is a mutation? | Any change in DNA (the order of nucleotide bases/letters). This can occur in ANY cell in the body. |
| Somatic Mutations | Occur in somatic (body) cells and are passed on by mitosis (example - cancer). |
| Germ Line Mutations | Occur in germ line cells that give rise to gametes and are passed on by meiosis (example - mutated offspring). |
| Mutations are caused by? | Mistakes made during DNA replication, mitosis, meiosis, or protein synthesis: Mutagens - chemicals that can cause DNA mutations (examples - radiation, UV light, cigarette smoke); viruses. |
| What are two main types of mutations? | Gene mutations and chromosome mutations. |
| What are gene mutations? | Happen during DNA replication and cause a change to the original DNA sequence. Examples include cystic fibrosis, dwarfism, and sickle cell anemia. |
| What are chromosome mutations? | Often happen during meiosis, changing the number or location of genes. Examples include Down syndrome, Turner's syndrome. |
| Point mutations | A from of gene mutations - substitute ONE nucleotide for another. Often caused by replication errors or environmental mutagens. |
| Frameshift mutations | A form of gene mutation - the insertion or deletion of a nucleotide. Example - ATTACC -> ATACC (deletion) OR ATTACC -> ACTTACC (insertion). These will affect ALL the codons that come after the insertion or deletion. |
| Chromosome Mutations: Duplication | Changes the size of chromosomes and results in multiple copies of a single gene. |
| Chromosome Mutations: Translocation | Pieces of non-homologous chromosomes exchange segments (during crossing over). |
| Chromosome Mutations: Nondisjunction | Chromosomes do not separate correctly during anaphase, resulting in 1 or 3 chromosomes rather than 2 per cell. Example - Down syndrome - 3 copies of the 21st chromosome. |
| What is a pedigree? | Chart used to trace the phenotypes and genotypes in a family to determine whether people carry diseases or traits. |
| In a pedigree, what does a non-filled square represent? | Male and does NOT have it. |
| In a pedigree, what does a non-filled circle represent? | Female and does NOT have it. |
| In a pedigree, what does a filled square represent? | Male and DOES have it. |
| In a pedigree, what does a filled circle represent? | Female and DOES have it. |
| Pedigree for an autosomal recessive trait/disease | Most common inheritance pattern for genetic diseases. Disease is RARE in the family (only a few affected family members). Males and female are EQUALLY likely to inherit this disease. Often SKIPS generations. |
| Pedigree for an autosomal dominant trait/disease | Common in the family (many affected). Males and females are EQUALLY likely to inherit. Disease will NEVER SKIP a generation - a child cannot inherit if both parents are healthy. |
| Pedigree for a sex-linked recessive trait/disease | Disease is RARE in the family (only a few affected). MALES are often more affected than females. Disease often skips generations. Affected fathers do NOT pass on to their sons. |
| How to determine the pattern of inheritance in a pedigree? | If way more males than females affected, pedigree is tracing sex-linked trait. If not, look for 2 parents that are the same shade that have a child who is different from them. Label that child homozygous recessive (rr) and the parents heterozygous (Rr). |
| Determining pattern of inheritance in a pedigree: If the child is shaded, the pedigree is tracing what? | Autosomal Recessive Trait |
| Determining pattern of inheritance in a pedigree: If the parents are shaded, the pedigree is tracing what? | Autosomal Dominant Trait |
| Biotechnology | Refers to any technology used to change the genetic makeup of living things to make products. Examples - production of antibiotics, vaccines, synthetic hormones, biofuels, food production. |
| Genetic Engineering | The direct manipulation of an organism's genome using biotechnology. The process of replacing specific genes in an organism to ensure that the organism expresses a desired trait. |
| Recombinant DNA | Artificially made DNA from 2 or more different sources. This can only occur when we know where genes occur on specific chromosomes. |
| Genome | An organism's complete set of DNA; all of its genes. |
| What is the Human Genome Project? | The first complete map of the entire human genome, completed in 2003. |
| What is the ENCODE Project? | Launched as a follow-up to the Human Genome Project (HGP) to interpret the sequence determined from the HGP. |
| What is the 1000 Genomes Project? | An even more detailed genome map, sequencing over 1,000 different people from a variety of ethnic backgrounds, completed in 2015. |
| What is a Gene Map? | Show the location of genes on a chromosome. |
| What are Restriction Enzymes? | Used to cut strands of DNA at specific locations (restriction sites). Resulting fragments have at least 1 sticky end and can be joined with other DNA fragments by DNA ligase. Used to create Recombinant DNA. |
| What is a Polymerase Chain Reaction? | A technique that allows you to copy a piece of DNA without a cell. This is also known as DNA amplification. |
| What is Gel Electrophoresis? | A laboratory method that uses an electric current to separate DNA fragments based on their molecular size. This is useful for DNA printing. |
| What are types of Genetic Engineering? | Personal genome sequencing, gene cloning and bacterial transformation, gene therapy and CRISPR, stem cells, selective breeding, hybridization. |
| What is Personal Genome Sequencing? | Using DNA sequencing technologies to have YOUR personal genome sequenced. This provides information about your physiology and susceptibility to certain diseases. |
| What is Gene Cloning? | Produces multiple identical copies of a gene. |
| What is Transformation? | The process of inserting recombinant DNA into host cells. Example - Recombinant DNA can be inserted into bacteria plasmids. Then when the bacteria reproduces, it makes millions of cells that all contain the cloned gene. |
| What is insulin? | A protein made by the pancreas that regulates blood sugar. |
| What is Gene Therapy? | Inserting a normal gene (or editing an existing gene) to fix an absent or abnormal gene. |
| What is CRISPR? | A gene editing technique that helps us to understand the genetics behind many diseases. It doesn't just introduce normal genes, it repairs the existing abnormal genes. |
| What are Stem Cells? | Undifferentiated cells that have the potential to become anything. Mostly found in embryos, but can also be found in adult bone marrow. Can be genetically manipulated and then introduced to replace tissue that is deficient due to disease or damage. |
| What is Selective Breeding? | Artificially breeding organisms with a desired trait. This is how "PHARM" animals are made. |
| What is Pharming? | Producing pharmaceuticals in farm animals or plants. |
| What are Genetically Modified Organisms? | Organisms altered by recombinant DNA technology for desired traits. |
| What is Inbreeding? | Crossing individuals that are closely related. This can cause health problems. |
| What is Hybridization? | A type is selective breeding between unrelated organisms. This occurs between 2 different species. Offspring are often hardier than either of the parents. |
| How does Biotechnology and Genetic Engineering impact our society? | Better diagnose and treat diseases (and potentially prevent them); alter affected genes through gene therapy; produce pharmaceuticals and pharm animals and plants; using microorganisms for environmental cleanup; forensics; agriculture (GMOs). |
| What is the MAIN reason that sex-linked disorders are most often observed in men? | Males only have 1 X chromosome (XY). If they inherit a recessive disease carrying allele on their X chromosome, they do not have a second X chromosome to mask it with a dominant, healthy allele. |
| Which of Mendel's Laws BEST explain whey sex-linked disorders are most often observed in men? | Law of Dominance |
| What are two examples of biotechnology and genetic engineering? Name and describe them. | Personal genome sequencing, gene cloning and bacterial transformation, gene therapy and CRISPR, stem cells, selective breeding, and hybridization. |
| For an XX female to express a recessive sex-linked trait, she must have what? | She must be homozygous for that trait and inherit two copies of the recessive allele - one from her mother and one from her father. |
| If a mutation only changes the nucleotide sequence for a single protein, then it is known as what? | Gene mutation. More specifically a point mutation. |
| The goal of the Human Genome Project was to: | Map the entire human genome. |
| Red hair and freckles are commonly inherited together. Which of the following patterns of inheritance explains this? | Linked Genes |
| The form of a gene that is always expressed if present is the what? | Dominant (Law of Dominance) |
| One a pedigree, how would a female individual with a disease be notated? | Filled in circle |
| Nondisjunction of autosomal chromosomes, such as chromosome number 21, can result in disorders like what? | Down Syndrome |
| A technique that allows engineers to artiificially amplify a section of DNA by copying it over and over again in a lab is known as what? | Polymerase Chain Reaction (PCR). Also known as DNA Amplification. |
| How would you categorize a genetic disorder that is equally likely in males and females and is caused by the presence of two affected alleles? | Autosomal Dominant Trait/Disease |
Created by:
Karoth
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