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Genetics Test 1
| Question | Answer |
|---|---|
| Four Major Scientific Discoveries | Human Genome Project, DNA Fingerprinting, Mammalian Cloning, and GFP (genetic engineering) |
| Human Genome Project | Launched in 1990, aimed to decode the human genome, biggest worldwide scientific collaboration in history, complete sequence was published in 2003, 3.2 billion DNA base pairs, 0.1% difference between humans |
| DNA Fingerprinting | Used in forensic science to help solve crimes, not all-determining, but helpful for circumstantial evidence |
| Mammalian Cloning | 1997- Ian Wilmut cloned a sheep named Dolly, legislation bans human cloning |
| GFP (Genetic Engineering) | Green Fluorescent Protein, keeps track of genetic product, developed from jellyfish, there are other fluorescent proteins |
| Genetics | The study of heredity and variations, focuses on genes, unifying discipline of biology |
| Gene | Segment of DNA that produces a functional product |
| Traits | Characteristics of an organism, carried by genes |
| Four Major Macromolecules | Nucleic acid, proteins, lipids, and carbohydrates |
| Human Genome | All the DNA found within all of our chromosomes |
| What do the characteristics of a cell largely depend on? | The proteins it produces |
| Proteome | All the proteins in a cell |
| Enzymes | Particularly important proteins that build up or breakdown molecules |
| DNA | Deoxyribonucleic acid, the blueprint of the cell, contained in the chromosome |
| DNA Bases | Adenine, Thymine, Cytosine, and Guanine (AT and CG) |
| Number of Chromosomes | 23 Homologous pairs |
| Transcription | Going from DNA to copy in mRNA |
| Translation | mRNA copies into an amino acid sequence |
| Morphological Traits | Affect the appearance |
| Physiological Traits | Affect the function |
| Behavioral Traits | Affect the way the organism responds to their environment |
| 4 Levels of Biological Organization | Genes are expressed at the molecular level Proteins function at the cellular level Traits are observed at the organism level Genes/traits within a specific species can be studied at the population level |
| Genetic Variation | Differences in inherited traits among individuals within a population |
| Morphs | Contrasting forms in a single species |
| Genetic Mutations | Differences in gene sequence, leads to different alleles |
| Changes in Chromosome Structure | Large sections are lost, duplicated, or reattached |
| Changes in chromosome number | Single chromosomes may be lost or gained |
| What are traits governed by? | Genes and the environment |
| What creates genetic variety? | Sexual reproduction because one copy comes from each parent |
| Biological Evolution | The change of genetic makeup of a population over time |
| Transmission Genetics | Basic genetic cross |
| Molecular Genetics | The molecular functions of DNA underling gene expression |
| Population Genetics | Genetic variation in population |
| Theories of Inheritance | Pangenesis, preformation, blending theory, and Gregor Mendel's theory |
| Pangenesis | Created by Hippocrates (400 BC), seeds are produced in all parts of the body and then are transmitted to offspring |
| Preformation | Spermists/Ovists, the human is already made just needs to be stimulated |
| Blending Theory | Factors that control heredity are malleable and can blend |
| Gregor Mendel | Father of Modern Genetics, monk, 1822-1884, studied pea plants and came up with many laws of genetics, basically ignored till after his death because his findings had a boring title |
| His Book | "Experiment on Plant Hybrids" published in 1866 |
| Pea Plants | An ideal model organism, very distinct varieties, are easy to bred and cross because they can be self-fertilized or cross fertilized |
| Self-Fertilization | Pollen and egg come from the same plant, occurs naturally |
| Cross-Fertilization | Pollen and egg are derived from different plants, requires removing and manipulating anthers |
| What did Mendel Study? | Seven characteristics that bred true, morphological characteristics |
| Trait | Specific permutation of character |
| Law of Segregation | The gamete carries only one of each allele |
| Monohybrid cross | Studying only one characteristic in Punnett Square |
| Alleles | Different variations of the same gene |
| Homozygous | Has two identical alleles |
| Heterozygous | Has two different alleles |
| Genotype | The specific allelic composition of an individual |
| Phenotype | The outward appearance of an individual |
| Punnett Squares | Developed by Reginald Punnett to visualize genetic crosses |
| Law of Independent Assortment | The separation of any pair of alleles is independent of the separation of other pairs |
| Multiplication Method | Used to determine probability for pheno or genotypes when crossing more than two genes |
| Pedigree | A family tree that keeps track of a specific trait, used for studying inheritance in humans |
| Recessive Pattern Predicts | 2 heterozygous individuals will have a 25% chance of producing an affected child or two affected individuals will have a 100% chance of producing an affected child |
| Dominant Pattern | Does not skip generations, can be inherited with only one allele |
| Independent Events | The probability of two events occurring together, uses "and" that means multiply |
| Mutually Exclusive Events | Probability of one or another even occurring, uses "or" that means add |
| Chai Square Test | Predicts goodness of fit, tells wether a hypothesis is correct, the lower, the better |
| Goodness of Fit | How closely the observed data matches the prediction |
| Chromosome | A structure within cells containing the genetic material |
| Prokaryotes | Have no true nucleus and a single chromosome (bacteria and archaea) |
| Eukaryotes | Have a true nucleus, bigger and more complex |
| Cytogeneticists | Study chromosomes, study karyotypes |
| Karyotypes | Organized representations of all the chromosomes in a cell |
| Somatic Cells | Typical body cells, diploid |
| Germ Cells | Gametes, haploid |
| Homologs | The members of a pair of chromosomes, nearly identical in size, same banding pattern, same genes but not same alleles |
| Cell Division | Used for asexual reproduction (binary fission) in prokaryotes, mitosis and meiosis in eukaryotes |
| Cell Cycle | S: chromosomes replicate G2: Cells grow and prepare to divide G1: cells grow and DNA prepares to replicate All these steps compose interphase |
| Mitosis Prophase | Chromatids condense and meiotic spindle apparatus forms |
| Mitosis Prometaphase | Microtubules attach to sister chromatids |
| Metaphase | Sister chromatids align along the metaphase plate |
| Anaphase | Sister chromatids separate |
| Telophase and Cytokinesis | Sister chromatids reach the separate poles and cell splits |
| Meiosis | Divides germ cells, makes haploid gametes for sexual reproduction, daughter cells are not genetically identical to the parent |
| Isogamous | Have only one form of gamete |
| Heterogamous | Two forms of gametes (sperm and egg/ovum) |
| Spermatogenesis | Produces for functional sperm |
| Oogenesis | Produces one functional egg cell |
| Human Sex Genes | X and Y |
| Insect Sex Genes | X and O |
| Bird Sex Genes | Z and W |
| Bees | Haploid and Diploid system |
| Fish and Reptiles | Temperature determines sex |
| Simple Mendelian Inheritance | Dominant/recessive inheritance |
| Wild-Type Alleles | Prevalent alleles in a population |
| Mutant Alleles | Alleles that have been altered by mutation , often defective in their ability to express proteins |
| Gain-of-Function | The protein encoded by the mutant gene is changed |
| Dominant-negative | Protein encoded by the mutant allele attacks the normal protein |
| Haploinsufficincy | Loss of function, most common |
| Incomplete Penetrance | Dominant allele does not influence the outcome of a trait in a heterozygous individual, polydactyly, phenotypes don't match genotypes |
| Expressivity | The degree to which a trait is expressed, can be due to the environment or modifier genes |
| Incomplete Dominance | The heterozygote exhibits a blended phenotype (pink flowers) |
| Overdominance | A heterozygote is more vigorous than both of the corresponding homozygous morphs (sickle cells) |
| Codominance | Both alleles are evenly expressed in the heterozygous individual (blood type) |
| Sex-Linked Genes | Found on one of the sex chromosomes |
| Sex-Influenced | traits where an allele is dominant in one sex but recessive in the other, hormones affect it, scurs |
| Sex-Limited | Only one gender has these traits, mating plumage |
| Lethal Alleles | Potentially causes the death of the organism |
| Essential Genes | Absolutely required for survival |
| Plietropy | Multiple effects of a single gene on the phenotype |
| Gene Interactions | Two or more different genes influence the outcome of a single trait |
| Epistasis | When the alleles of one gene mask the phenotypic affects of the alleles of another |
| Maternal Effect | inheritance pattern of certain genes in which the mom's genotype directly determines the phenotype of the offspring, the genotype of the father and offspring don't matter , caused by nurse cells that surround the zygote and feed it the mother's proteins |
| Epigenetics | A pattern which a modification occurs to a gene or chromosome that alters gene expression, caused by DNA and chromosomal modifications |
| Dosage Compensation | Results in similar levels of gene expression between sexes |
| Lyon Hypothesis | Dosage compensation occurs in placental mammals through the inactivation of one X chromosome in females |
| Barr Body | Highly condensed x chromosome |
| Genomic Imprinting | A segment of DNA is marked and the effect is maintained throughout the life of the organism, monoallelic expression, you are what your grandparents ate |
| Maternal Imprinting | Mother's genetics/contributed alleles don't matter, deactivated at imprinting control region (ICR) when egg genes or sperm genes are methylated |
| Extranuclear Inheritance | Inherited patterns involving genetic material outside of the nucleus (mitochondria and chloroplast) |
| Maternal Inheritance | Mitochondria/chloroplast are inherited directly from the mother, transmitted through the cytoplasm of the egg |
| Paternal Leakage | Sometimes an organelle can come from dad, very rare |
| Endosymbiosis theory | Cyano bacteria and purple bacteria started living inside another cell and developed into chloroplast and mitochondria respectively |
| Chromosomal Genes | Carry hundreds or thousands of genes, leads to violation of the law of independent assortment, chromosomes are called linkage groups |
| Synteny | Two or more genes that are located on the same chromosome and are linked |
| Gene Linkage | Genes close together on a chromosome move together |
| Human Linkage Groups | 22 in humans, females have 23 and males have 24 |
| Crossing Over | Genes far apart from each other are more likely to assort independently |
| Two-Factor Cross | Linkage between two genes |
| Three-Factor Cross | Linkage between three genes |
| History of Linkage | Discovered by Bateson and Punnett in 1905 |
| When does crossing over occur? | Prophase 1 of meiosis, undoes linkage |
| Thomas Hunt Morgan Conclusions | Genes for body color, eye color, and wing length in fruit flies are x linked Homologous X chromosomes can cross over Crossing over is more likely between genes that are further apart on the chromosome |
| Genetic Mapping | Used to determine the linear order of linked genes along the same chromosome, based on the likelihood that recombinance will occur between two genes |
| Units of Distance | Map units (mu), centiMorgans in fruit flies (cM), or percent recombinant |
| Testcross | The mating of a heterozygous individual with two or more genes with one that is homozygous recessive for the same genes, expected to yield a max of 50% recombinant offspring |
| 3 Factor Crosses | Used to determine the order and distance between linked genes |
| Interference | When the first crossover decreases the probability that a second crossover will occur |