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GENETICS
EXAM 1-MOD 1-3
| Question | Answer |
|---|---|
| GENETICS | is the study of inherited traits and their variation, and how these traits are passed from one generation to the next |
| Genetic genealogy | considers how people are related and where their ancestors lived |
| GENES | are the unit of inheritance and are composed of deoxyribonucleic acid (DNA). |
| CELLS | the basic units of life, to manufacture specific proteins |
| GENOME | complete set of genetic information |
| EXOME | portion of the genome that encodes proteins |
| GENOMICS | is a field of study that reveals how closely related we are to each other and to other species |
| BIOETHICS | addresses issues of privacy, confidentiality, and discrimination that arise from knowledge of our DNA sequences |
| DNA MOLECULE | “rails” of alternating sugars and phosphates and “steps” of adenine-thymine (A-T) and guanine-cytosine (G-C) nitrogenous base pairs. Each three contiguous base pairs encode one of 20 types of amino acids, which build proteins |
| DNA REPLICATION | as the sides of the double helix part and fill in with new bases |
| DNA TRANSCRIPTION TO RNA | messenger RNA carries DNA information out of the cell’s headquarters (nucleus) to where it is used to synthesize proteins |
| MUTATION OF ALLELES | CHANGE IN THE GENE |
| SOMATIC CELL | has 23 pairs of chromosomes, constituting two copies of the genome |
| AUTOSOMES | 22 PAIRS THAT do not differ between the sexes |
| SEX CHROMOSOMES | 1 PAIR, XX is female; XY is male. |
| KARYOTYPE | is a chart of an individual’s chromosomes |
| COMPLEX TRAIT | is caused by one or more genes and environmental influences. Most genes do not function alone |
| DIFFERENTIATED | cell types express different subsets of genes. Differentiated cells interact, forming four basic tissue types that interact, forming organs and organ systems |
| STEM CELLS | “self-renew” and produce differentiated cells, properties that are essential for growth, development, and healing |
| GENOTYPE | is the allelic makeup of an individual |
| PHENOTYPE | is the observable or measureable expression of an individual’s alleles (traits or health condition) |
| DOMINANT ALLELES | alleles are expressed when one copy is present. |
| RECESSIVE ALLELES | require two copies for expression |
| PEDIGREES | are diagrams that depict the transmission of recessive and dominant traits through generations. The proportion of the genome that an individual shares with an ancestor halves at each generation |
| GENE POOL | is all of the alleles in a given population |
| DNA PROFILING | compares DNA sequences among individuals. The more DNA sequences individuals share, the more closely related they are and the more recently they’ve shared ancestors |
| MICROBIOME | the microbes on and in the body, environmental exposures, diet, and activity levels |
| PHARMACOGENETICS | predicts responses of individuals to drugs based on genotypes. |
| GENETIC MODIFCATION | alters a gene or genome in a way that does not occur in nature, such as combining DNA sequences from individuals of different species. |
| GENOME EDITING | adds, deletes, or replaces specific genes. |
| METAGENOMICS | considers sequences of all DNA in a habitat, from an ocean to a small body part. |
| SOMATIC CELLS | (body cells) are diploid, which means that they have two copies of the genome |
| GERM CELLS | (sperm and egg cells) are haploid. They have one genome copy |
| STEM CELLS | which are diploid, can divide and differentiate, replacing dead or damaged cells |
| ALL CELLS | respond to the environment and use energy to power specialized functions, such as reproduction and movement |
| CELLS CLASSIFICATION | Three broad varieties based on complexity: Eubacteria (most bacteria, with prokaryotic cells), Archaea (less well understood microorganisms), and Eukaryotes (complex eukaryotic cells, including our own.) |
| Archaea and Eubacteria | are single-celled, but they differ in certain features of their RNA and membranes |
| PROKARYOTIC CELLS | do not have nuclei and other organelles |
| EUKARYOTIC CELLS | HAVE A NUCLEI AND OTHER ORGANELLES |
| major macromolecules of cells | carbohydrates (simple sugars and polysaccharides), lipids (fats and oils), proteins, and nucleic acids (DNA and RNA) |
| CARBOHYDRATES | provide energy, structural support, and the ability to move |
| LIPIDS | Form hormones and membranes, store energy, and provide insulation |
| PROTEINS | Very important are enzymes, which are proteins that catalyze (speed) biochemical reactions |
| NUCLEIC ACIDS | transmit information from generation to generation and oversee protein synthesis |
| MACROMOLECULES | interact, forming larger structures in cells such as membranes |
| ORGANELLES | establish compartments in the cell where specific functions take place, such as energy acquisition and secretion |
| NUCLEUS | contains DNA and has a double membrane and nuclear pores, which allow macromolecules in and out. |
| NUCLEOLUS | WHERE RIBOSOMES ARE PRODUCED |
| PLASMA MEMBRANE | outer boundary of the cell |
| CYTOPLASM | is the portion of the cell outside the nuclear membranes and inside the plasma membrane. The cytoplasm contains organelles and diverse molecules |
| ENDOPLASMIC RETICULUM | are a membranous network where proteins and lipids are made and delivered to the plasma membrane, organelles, or are secreted |
| VESICLES | where sugars may be added to proteins or lipids |
| EXOSOMES | are vesicles that transport substances between cells |
| LYSOSOMES | contain enzymes that degrade cellular debris in a process termed autophagy |
| ENDOSOMES | are vesicles that bring worn cellular parts, dead bacteria, and extra nutrients to lysosomes |
| PEROXISOMES | are sacs that house enzymes that detoxify certain substances, break down lipids, and synthesize bile acids |
| MITOCHONDRION | has a double membrane. The inner folds carry enzymes that catalyze reactions that extract energy from nutrients and store it as ATP. Mitochondria have their own DNA |
| BIOLOGICAL MEMBRANE | Is a phospholipid bilayer, which forms because individual fatty acids have hydrophobic and hydrophilic portions |
| CYTOSKELETON | is a dynamic meshwork of protein rods and tubules that gives a cell its specific architecture |
| major cytoskeleton components | MICROTUBLES-continually form from tubulin pairs and are broken down MICROFILAMENTS-are solid rods of actin protein with versatile functions. They form a supportive meshwork beneath the plasma membrane INTERMEDIATE FILAMENTS- |
| MITOSIS | the process by which chromosomes duplicate and separate |
| CYTOKINESIS | PROCESS BY WHICH THE CELL DIVIDES |
| APOPTOSIS | PROGRAMMED CELL DEATH begins with a signal to a death receptor, which activates caspases to cut cell parts, including mitochondria, the cytoskeleton, and DNA. Pieces are wrapped in membrane, and phagocytes dismantle the destroyed cell |
| MEIOSIS | is a different type of cell division that halves two genomes into one as sperm and eggs form |
| INTERPHASE | proteins, lipids, and carbohydrates are produced in G1 phase; DNA and proteins are made during S phase; and more proteins are produced in G2 phase. Nondividing cells may arrest during interphase and enter the quiescent G0 phase |
| PROPHASE | replicated chromosomes condense, a spindle forms, and the nuclear membrane breaks down. |
| METAPHASE | chromosomes align down the center of the cell |
| ANAPHASE | centromeres part and one chromatid from each pair is pulled to opposite ends of the cell |
| TELOPHASE | the cell pinches in the middle (cytokinesis) and the two new cells separate |
| STEM CELL | s an unspecialized cell that divides, yielding two stem cells or one stem cell and one progenitor cell that can differentiate down any of several developmental pathways |
| DIFFERENTIATED SPECIALIZED CELLS | descend from less differentiated cells in sequences called cell lineages |
| PROGENITOR CELLS | DO NOT SELF RENEW |
| TOIPOTENT | FERTILIZED OVUM |
| EMBRYONIC STEM CELLS | form in a laboratory dish from cells sampled from the inner cell mass of an early embryo. They come from existing embryos or can be derived using somatic cell nuclear transfer |
| INDUCED PLURIPOTENT CELLS | are derived from somatic cells exposed to specific combinations of chemical factors. The cells are reprogrammed to specialize in particular ways |
| MALE SEX CELLS | SPERM |
| FEMALE SEX CELLS | OOCYTES |
| GAMETES | MALE AND FEMALE SEX CELLS |
| GONADS | PAIRED MALE AND FEMALE REPRODUCTIVE SYSTEMS MALES-TESTES FEMALE-OVARIES |
| SEMINIFEROUS TUBULES | SPERM IS DEVELOPED HERE AND WINDS IN THE TESTES |
| EPIDIDYMIS | WHERE SPERM IS MATURE AND COLLECT |
| BULBOURETHRAL GLANDS | CONTRIBUTE SECRETIONS TO SEMEN |
| OVARIES | WHERE OOCYTES DEVELOP |
| ZYGOTE | NURTURES A FERTILIZED OVUM |
| MEIOSIS | A FORM OF CELL DIVISION THAT PRODUCES HAPLOID (1N) GAMETES FROM DIPLOID (2N) GERMLINE CELLS |
| MEIOSIS I | REDUCTION DIVISION HALVES OF THE CHROMOSOME NUMBER |
| MEIOSIS II | EQUATIONAL DIVISION MITOTICALLY DIVIDES EACH OF THE TWO CELLS FROM MEIOSIS I, YIELDING 4 HAPLOID |
| CROSSING OVER | DURING PROPHASE I |
| INDEPENDENT ASSORTMENT | DUE TO RANDOM ALIGNMENT OF HOMOLOGOUS PAIRS OF CHROMOSOMES ON THE EQUATOR DURING METAPHASE I |
| SPERMATOGENESIS | A DIPLOID SPERMATOGONIUM DIVIDES MITOTICALLY, YIELDING A STEM CELL AND A PRIMARY SPERMATOCYTE |
| SPERMATID | AN IMMATURE MALE SEX CELL |
| SPERMATOZOA | MATURE MOTILE MALE SEX |
| OOGENESIS | A DIPLOID OOGONIUM ACCUMULATES CYTOPLASM AND REPLICATES ITS CHROMOSOMES, BECOMING A PRIMARY OOCYTE |
| MEIOSIS AND MUTATIONS | -GAMETES OF OLDER PEOPLE ARE MORE LIKELY TO HARBOR NEW MUTATIONS -MUTATIONS IN FEMALE ARE LIKELY TO AFFECT ENTIRE CHROMOSOME BC MEIOSIS IS ARRESTED BETWEEN STAGES -NEW MUTATIONS IN MAKE ARE MORE LIKELY TO AFFECT SINGLE GENES |
| EMBRYO | FIRST 8 WEEKS OF A PRENATAKL HUMAN |
| CLEAVAGE | ZYGOTE DIVIDES MITOTICALLY A DAY AFTER FERTILIZATION |
| MORULA | STAGE OF EMBRYONIC DEVELOPMENT WHERE A FERTILIZED EGG UNDERGOES RAPID CELL DIVISION |
| BLASTOCYST | A CRUCIAL STEP IN EARLY EMBRYONIC DEVELOPMENT THAT OCCURS AROUN D5-6 DAYS AFTER FERTILIZATION |
| TROPHOBLAST | SECRETE HUMAN CHORIONIC GONADOTROPIN, WHICH PREVENTS MENSTRUATION |
| WHEN DOES THE AMNIOTIC CAVITY FORMS | DURING WEEK 2 OF PREGNANCY |
| PRIMARY GERM LAYERS | ECTODERM ENDODERM MESODERM |
| ECTODERM | OUTER LAYER, WHICH FORMS THE SKIN, HAIR, NAILS, LENS OF THE EYE, INNER EAR, AND PART OF THE NERVOUS SYSTEM |
| ENDODERM | THE INNERMOST LAYER, WHICH FORMS THE DIGESTIVE TRACT, LIVER, PANCREAS, LUNGS, AND SOME GLANDULAR TISSUES |
| MESODERM | FORMS THE MUSCULOSKELETAL SYSTEM, CIRCULATORY SYSTEM, KIDNEYS, INTERNAL SEX ORGANS, AND SOME CONNECTIVE TISSUE |
| GASTRULA | EARLY STAGE EMBRYO, FOLLOWING THE BLASTULA STAGE AND UNDERGOES GASTRULATION TO FORM THE GERM LAYERS |
| EPIGENETICS | STUDY OF CHANGES TO GENE FUNCTION THAT DO NOT INVOLVE ALTERATIONS TO THE UNDERLYING DNA sequence |
| HOMEOTIC GENES | CONTROL HOE THE EMBRYO DEVELOPS PARTS IN THE CORRECT PLACES |
| chorionic villi | develop during week 3 and extend toward the woman's bloodstream, facilitating diffusion of nutrients and oxygen to the embryo and removal of its wastes |
| umbilical cord | yields pluripotent stem cells for research and medical therapy |
| monozygotic twins | result from splitting of one fertilized ovum |
| dizygotic twins | result from 2 fertilized ova |
| conjoined twins | arise when 2 individuals share tissues or organs |
| organogenesis | occurs as cells of the germ layers develop into distinct organs |
| by week 8 of the embryo | all organs have begun to develop |
| first trimester | fetus displays neuromuscular activity such as sucking its thumb, breathing, and kicking |
| 2nd trimester | fetus curls into a head to knee position and moves |
| final trimester | -fetus grows rapidly -fat fills out the skin -digestive and respiratory systems mature last |
| birth defect | result from a mutation can be passed to future generations, but an environmentally caused birth defect cannot |
| critical period | when a prenatal structure is sensitive to damage by a faulty gene or environment insult -most defects occur in the embryo stage |
| teratogens | are chemicals or agents that cause birth defects, such as alcohol, nicotine, excesses of certain nutrients, malnutrition, occupational hazards, and infectious agents |
| thalidomide | affects the development of limb buds in early embryo similiar to the inherited condition phocomelia |
| exposure to chemicals in cigarettes | cause growth deficiencies and miscarriage |
| alcohol exposure | result in poor growth and intellectual disability |
| maturation and aging | -progession through the life cycle -cellular and bodily function decline -diseases that begin later in life tend to be complex |
| adult onset inherited disorders | -aging is genetically controlled and occurs as cells die -intrauterine growth retardation predisposes the individual for specific health problems -single gene recessive disorders -dominantly inherited disorders |
| progeroid syndromes | result from faulty DNA repair, which enables mutations to persist |
| werner syndrome | adult onset usually apparent by age 20 and death occurs before 50 |
| hutchinson-gilford progeria syndrome | caused by a sing DNA base change in the gene for lamin A, which generates a form of the protein progeria that touches chromatin through the nuclear membrane |
| genes and longevity | 40% get common disorders at much older ages 40% live with and survive the common disorders |
| environmental causes of death | predominate from ages 60 to 85, but after that genetics effects predominate |
| heredity | concerns the transmission of traits and biological information between generations |
| Cystic Fibrosis | disease caused by a mutation in the CFTR gene -causes replacvement of the amino acid glycine with aspartic acid at a specific site -alters CFTR protein, so that it cannot open at the cell's surface -difficulty breathing and impaired digestion |
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