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GCD 3022:Unit 1
| Question | Answer |
|---|---|
| genome | the DNA found within all of our chromosomes. |
| genetics | the branch of biology that focuses on heredity and variation. |
| gene (molecular level) | a segment of DNA that contains the information to produce a functional product. |
| traits (organism level) | characteristics of an organism. |
| nucleic acids (DNA/RNA), proteins, carbohydrates, and lipids | four important categories of larger molecules. |
| macromolecules | nucleic acids, proteins, carbohydrates |
| organelle | a membrane-bound compartment with a specialized function-like a nucleus. |
| proteome | the entire collection of proteins that a cell makes at a given time. |
| Is DNA a small molecule, a macromolecule, or an organelle? | Macromolecule. DNA is the largest macromolecule found in living cells. |
| Deoxyribonucleic acid (DNA) | The genetic material of living organisms. Stores the information needed for the synthesis of all cellular protein. |
| nucleotides | DNA is composed of a linear sequence of __________. Each _________ contains one of four nitrogen-containing bases: adenine (A), thymine (T), guanine (G), or cytosine (C). |
| polypetides | chains of amino acids that form protein. DNA sequences with most genes contain the information to direct the order of amino acids within __________. |
| codon | In the genetic code, a three-base sequence (e.g. ATG) specifies one particular amino acids among the 20 possible choices. |
| enzymes | a protein that accelerates chemical reactions. |
| Which type of macromolecules are found in chromosomes? | DNA and proteins. |
| chromosomes | DNA is found within large structures known as ___________. Made up of DNA and proteins to carry genetic information. |
| karyotype | a micrograph (image) of the 46 chromosomes contained in a cell from a human. A complete set of an organism's chromosomes. |
| gene expression | the process of using a gene sequence to affect the characteristics of cells and organisms (transcription, translation, and central dogma of genetics). |
| transcription | the DNA sequence within a gene is copied into a nucleotide sequence of ribonucleic acid (RNA) and produce mRNA. |
| messenger RNA (mRNA) | when the protein-coding gene is transcribed, the first product is an RNA molecule known as __________. |
| translation | the polypeptide synthesis- the sequence nucleotides within the mRNA determines the sequence of amino acids in a polypeptide to form a functional protein |
| central dogma of genetics/molecular biology | the pathway of gene expression (translation & transcription) from DNA to RNA to protein. |
| Which of the following is not a constituent of a cell's proteome? -An enzyme -A cytoskeletal protein -A transport protein -An mRNA | an mRNA is not a protein, it is a template to help the protein synthesis process, but it is not a protein. |
| A gene is a segment of DNA that contains the information to produce a functional product. The functional product of most genes is -DNA -mRNA -a polypeptide -none of the above | the functional product of most genes is a polypeptide. |
| The function of the genetic code is to -promote transcription -specify the amino acids within a polypeptide -do none of the above | The function of the genetic code is to specify the amino acids within a polypeptide. |
| The direct result of the process of transcription is the synthesis of -DNA -RNA -polypeptide -all of the above | The direct result of the process of transcription is the synthesis of a RNA. |
| Where is the information to make a polypeptide stored? | The information to make a polypeptide is stored in mRNA. |
| morphological traits | affects appearance, form, and structure of an organism. (e.g. color/height of flower) |
| physiological traits | affects the ability of a organism to function (e.g. sugar metabolism of a bacterium) |
| behavioral traits | affects the way an organism responds to its environment (e.g. the mating calls of birds). |
| molecular level (genes) | - gene transcription/translation lead to production of particular protein - Ex: pigmentation gene responsible for amount of pigment produced |
| cellular level (protein) | - protein affects structure and workings of cell - Dark pigmentation enzyme works very well → a lot of dark pigment - Light pigmentation enzymes work poorly → very little pigment |
| organism level | - trait that can be seen by looking at the organism - Red flower has red pigment, which is produced at molecular level - Amount of pigment → wing color |
| A species is ________ | a group of organisms that maintains a distinctive set of attributes in nature. |
| population level | the occurrence of a trait within a species. |
| alleles | alternative versions of a specific gene (e.g. dark/light pigmentations) |
| genetic variation | the differences in inherited traits among individuals in a population. |
| morphs | contrasting forms within the same species. |
| gene mutations | small or large differences occurred within gene sequences in which a gene is found in two or more alleles. |
| environment | the surroundings in which an organism exists |
| phenylketonuria (PKU) | a human genetic disorder where a human cannot metabolize phenylalanine (AA in eggs, meat, dairy) due to a rare variation in the gene that codes phenylalanine hydroxylase results in a nonfunctional version of this enzyme. |
| amino acids | a molecule that makes up protein. |
| diploid | sexually producing species-cells contain two copies of each chromosomes, one from each parent. |
| homologs (of each other) | the two copies of each chromosomes, one from each parent. |
| somatic cells (diploid) | soma=body. Most cells of the human body that are not directly involved in sexual reproduction (A human somatic cell contains 46 chromosomes) |
| gametes (haploid) | the sperm and egg cells (23 chromosomes, half of the 46) |
| biological evolution (evolution) | the process of changes in the genetic makeup of a population from one generation to the next. |
| natural selection | mutation/beneficial allele passed to offspring for better reproduction |
| At which of the following levels can a gene expression be observed? -Molecular and cellular levels -Organism level -Population level -All of the above | A gene expression be observed at all levels |
| Variation in the traits of organisms may be attributable to -gene mutation -alternations in chromosome structure -variation in chromosome number -all of the above | Variation in the traits of organisms may be attributable to all of the above changes. |
| A human skin cell has 46 chromosomes. A human gamete has -23 -46 -92 -None of the above is the number of chromosomes in a sperm cell | A human gamete has 23 chromosomes |
| Evolutionary change caused by natural selection results in species with -greater complexity -less complexity -greater reproductive success in their environment -the ability to survive longer | Evolutionary change caused by natural selection results in species with greater reproductive success in their environment. |
| model organisms | organisms studied by many different researchers so they can compare their results and determine scientific principles that apply more broadly to other species. |
| genetic cross | the breeding of two selected individuals and then analyzing their offspring in an attempt to understand how traits are passed from parents to offspring |
| genetic approach | studied by molecular geneticists to study mutant genes that have abnormal function |
| loss-of-function mutation | the effects of a gene mutation that eliminates the function of a gene, resulting in a gene called loss-of function allele |
| hypothesis testing/scientific method | scientists follow a series of steps to reach verifiable conclusions about the world |
| discovery-based science | the collection and analysis of data without the need for a preconceived hypothesis |
| inclusion | the practice that strives to include all types of people regardless of their differences |
| Gender | the characteristics of women and men that are socially constructed, which may include specific social roles, norms, and expectations that differentiate women and men. |
| Gender identity | person’s deeply held inner feelings about whether they’re a woman, man, both, or neither. Gender identity isn’t seen by others. |
| wild type | any characteristic that is commonly found in the members of a given species in nature (i.e., in the wild). |
| mitosis (somatic) | sorts chromosomes so that each daughter cell receives the same number and types of chromosomes as the original mother cell had. (prophase, prometaphase, metaphase, anaphase, telophase) |
| meiosis (gametes) | results in daughter cells with half the number of chromosomes in animals and plants |
| chromosomes = colored body | structures within living cells that contain the genetic material, genes are in located in this, contains a very long segment of DNA |
| chromatin | the complex between DNA and proteins in chromosome in eukaryotes. |
| prokaryotes | bacteria and archaea, their chromosomes are not contained within a membrane-bound nucleus in the cell but in a nuleoid |
| nucleoid = prenucleus | a single type of circular chromosome in a region of the cytoplasm of prokaryotes |
| eukaryotes = true nucleus | plants, animals, and fungi, chromosomes in nucleus |
| organelle | membrane compartments with specific functions in eukaryotes |
| nucleus | an organelle bounded by two membranes that contains the genetic material in a eukaryotic cell found within chromosomes |
| cytogenetics | the field of genetics that involves microscopic examination of chromosomes. |
| somatic cell | any cell of the body that is not a gamete or a precursor (baby gamete) to a gamete |
| gametes/germ cells | sperm and egg cells or their precursors |
| karyotype | an organized representation of the chromosomes within a cell, reveals how many chromosomes are found within an actively diving somatic cell |
| diploid | most eukaryotic are _______, where each type of chromosomes is a member of a pair, has two sets of chromosomes |
| homologs | the members of a pair of chromosomes in a diploid species that is homologous pair, may carry different alleles |
| allele | different version of a gene |
| homozygous | both homologs carry the same allele (both dominant or both recessive) |
| heterozygous | homologs carry different alleles (one dominant and one recessive) |
| locus (loci for plural) | the physical location of a gene on a chromosome |
| Which of the following is not found in a prokaryotic cell? -plasma membrane -ribosome -cell nucleus -cytoplasm | The structure not found in a prokaryotic cell is a cell nucleus. |
| how many sets of chromosomes are found in a human somatic cell, and how many chromosomes are within one set? | 2 sets, with 23 in each set |
| asexual reproduction | preexisting cell divides to produce two new cells. This is how bacteria proliferate. Does not involve genetic contribution from two different gametes |
| multicellularity | species such as plants, animals, most fungi, and some protists are derived from a single cell that has undergone repeated cellular divisions |
| binary fission | bacteria reproduce asexually by _________, which replicate chromosomes and then distribute a copy into each of the daughter cell. Begins with a single mother cell ad produces two genetically identical daughter cells |
| cell cycle | the phases of eukaryote cells to reproduce through G (gap), S (synthesis of genetic material), and M (mitosis). G phase has G1 and G2 phases |
| interphase | G1, S, G2 phases of the cell cycle of eukaryote cell |
| G0 phase of the cell cycle | not advancing through the cell cycle and not reproducing, never divide again, a nondividing stage |
| G1 phase of the cell cycle | a cell prepares to divide by reaching a restrictive point |
| restrictive point | in G1 phase, cell accumulate molecular changes (e.g. produce new proteins) that causes it to advance through the rest of the cell cycle. |
| S phase of the cell cycle | chromosomes are replicated past the restrictive point. A cell has twice as many chromatids as it had chromosomes in the G1 phase |
| chromatids | two copies of a chromosome after replication in the S phase |
| centromere | the joined region of DNA in a pair of sister chromatids |
| a pair of sister chromatids, dyad | two copies of a chromosome that are joined in the S phase |
| monad | a single chromatid within a dyad |
| kinetochore | a group of proteins that bound to the centromere, helps to hold the sister chromatids together and play a role in chromosome sorting |
| G2 phase of the cell cycle | the cell accumulates the materials necessary for nuclear and cell division |
| M phase of the cell cycle | when mitosis occurs |
| cytokinesis | two daughter cells are form in the final stage of M phase |
| mitotic spindle apparatus | organize and sort chromosomes, form from microtubule organizing centers |
| microtubule-organizing centers (MTOCs) | structures in eukaryotic cells which microtubules grow |
| centrosomes | the spindle apparatus is formed from two MTOCs called ________, plant cells do not have this |
| centrioles | found within each centrosome at a right angle |
| astral microtubules | emanate outward from the centrosome |
| polar microtubles | project towards the region where the chromosomes will be found during mitosis-the region between two spindle poles |
| kinetochore microtubles | have attachment to kinetochores, complexes bound to the centromeres of individual chromosomes |
| interphase | the chromosomes are decondensed found within the nucleus and the two centromeres are together |
| prophase | replicated chromosomes are condensed into sister chromatids and forms the spindle apparatus as the two centromeres move apart |
| prometaphase | the centromeres move to opposite side of the cell and establish two spindle poles, and completely form the spindle apparatus |
| metaphase | the pairs of sisters chromatids align along a plane called metaphase plate. Each dyad is attached to both poles by kinetochore microtubules. |
| anaphase | the connection that is responsible for holding each pair of chromatids together is broken. Each monad is linked to one of the two poles as the two poles move apart. |
| telophase | the chromosomes reach their respective poles and decondense. The nuclear membrane reform to produce two separate nuclei |
| cytokinesis | two nuclei are segregated to separate daughter cells |
| cleavage furrow | an indentation in the surface of a cell that marks the beginning of cytokinesis, the process that splits a cell into two daughter cells. |
| cell plate | In plants, two daughter cells are separated from the mother cell by the formation of a ________. |
| meiosis | haploid cells are produced from a cell that was originally diploid, haploid gametes are produces by _______. |
| haploid | contains a single set of chromosomes |
| synapsis | the replicated homologous chromosomes align themselves align themselves along their entire length, during prophase of meiosis I |
| bivalent (tetrad = four monads) | a structure which contains two pairs of sister chromatids after synapsis, during prophase of meiosis I |
| chiasma formation (crossing over) | physical exchange of chromosome pieces, during prophase of meiosis I |
| chiasma (chiasmata plural) | At a ________, the DNA within a chromatid from each homolog breaks at the same location and then attaches to its homolog. |
| metaphase of meiosis I | the bivalents (tetrads) are organized along the metaphase plate. the pairs of sister chromatids are aligned in a double row randomly rather than a single row, as occurs in mitosis |
| anaphase of meiosis I | the two dyads within a tetrad separate from each other and migrate to opposite poles. |
| mitosis, meiosis | _________ produced two diploid daughter cells with six chromosomes each, whereas _________ produced four haploid daughter cells with three chromosomes each. |
| gamete | haploid reproductive cells that fuse to form a zygote |
| hybridization (cross) | two individuals with different characteristics are bred to each other |
| hybrids | the offspring of a hybridization |
| cross-fertilization | crosses between different plants |
| self-fertilization | gametes are derived from the same plant |
| strain (agriculture) | a genetically related group of individuals that display one or more differences compared to another group of individuals |
| characters | the general characteristics of an organism (e.g. color of flower) |
| trait (variant) | the specific properties of a character (e.g. purple color of flower) |
| true-breeding strain | a strain that continues to produce the same trait after several generation of self-fertilization |
| single-factor cross | a cross in which an experimenter observes one character |
| monohybrids | a cross between two parents with different variants for a given character produces a single-character hybrids |
| Mendelian inheritance | the law of segregation and the law of independent assortment, pattern of traits in eukaryotic species |
| simple Mendelian inheritance | traits that are affected by a single gene that is found in two different alleles, one allele is dominant over the other |
| Mendel's law | tall and short plants are crossed and the F1 generation is allowed to fertilize, the F2 generation shows a 3:1 phenotypic ratio of tall to short offspring |
| wild-type alleles | prevalent alleles in a natural population, tend to promote the reproductive success of organisms in their native environment |
| genetic polymorphism | more than one wild-type allele may occur in large populations |
| mutant alleles | random altered preexisting alleles, inherited reccessively |
| loss-of-function alleles | defective alleles that cannot express a functional protein |
| wild-type phenotype | 50% of the functional protein is adequate to provide the __________ |
| gain-of-function mutation | change the gene or the protein coded by a gene so that it gains a new or abnormal function (e.g. cancer cells) |
| dominant-negative- mutations | change the protein such that the mutant protein acts antagonistically (attack ) to the normal protein so the normal protein is not funcitonal |
| haploidinsufficiency | the dominant allele is a loss-of-function allele |
| incomplete penetrance | a pattern of inheritance in which an allele that is expected to cause a particular phenotype does not always do so |
| expressivity | the outcome of traits is the degree to which the trait is expressed |
| temperature-sensitive allele | the phenotypic effects are dependent on the temperature (e.g. Siamese cats fur tends to be darker if raised in a warmer temperature) |
| incomplete dominance | a pattern of inheritance in which the phenotype of the heterozygote is intermediate between those of the corresponding homozygous individuals (e.g. red + pink flower = white flower) |
| heterozygous advantage (overdominance) | the phenotype in which a heterozygote has greater reproductive success compare with either of the corresponding homozygotes (e.g. sickle shaped cell anemia are in homozygous rather than heterozygous) |
| multiple alleles | genes are typically found in a few or even many alleles (ABO blood type) |
| codominace | the phenomenon in which two alleles are both expressed in the heterozygous individual (e.g. AB blood type has both the IA antigen and IB antigen ) |
| antigens | molecular structures that are recognized by antibodies produced by the immune system |
| X-linked inheritance | when a gene is located on the X chromosome nut not on the Y chromosome, it follows a pattern of transmission called _________ |
| hemizygous | the males have a single copy of an X-linked gene (so males are more likely to be affected by rare, recessive X-linked disorders |
| X-linked recessive | the allele causing the disease is recessive and lccated on the X chromosome |
| reciprocal cross | a second cross in which the sexes and phenotypes a reversed |
| sex-linked gene | a gene that is found on one of the two types of sex chromosomes but not on both |
| X-linked genes | found only on the X chromosome |
| Y-linked genes (holandric genes) | found only on the Y chromosome, the gene is transmitted only from a male parent to a male offspring |
| pseudoautosomal inheritance | the inheritance pattern of a gene located on an autosome (non-sex chromosome) even though it is actually located on the sex chromosomes. Males have 2 copies of the genes, and can transmit to both F & M offspring |
| sex-influenced inheritance | the phenomenon in which an allele is dominant in one sex but recessive in the other sex |
| genome | all of the chromosomes and DNA sequences that an organism or species can possess |
| genetic variation | genetic differences among members of the same or different species |
| allelic variation | variation in specific genes |
| cytogeneticists | scientists who study chromosomes microscopically—examine the chromosomes from many members of a given species to determine the common chromosomal composition and to identify rare individuals that show variation in chromosome structure and/or number. |
| metacentric | centromere is near the middle |
| submetacentric | centromere is slightly off center |
| arocentric | centromere is significantly off center but not at the end |
| telocentric | centromere is at one end |
| karyotype | a photographic (microscopic) representation in which all of the chromosomes within a single cell have been arranged in a standard fashion |
| G bands | a unique feature for each chromosome (dark banding) to analyze and identify chromosomes |
| deletion (deficiency) | a segment of chromosome material is missing, the affected chromosome is deficient in a significant amount of genetic material |
| deficiency | the condition of a chromosome that is missing a region |
| duplication | a section of chromosome if repeated more than once within a chromosome |
| insertion | an extra segment of DNA has been inserted into the chromosome, a duplication called _________ |
| indel | refers to the insertion or deletion of a DNA segment |
| inversion | a change in the direction of the genetic material along a single chromosome |
| translocation | one segment of a chromosome becomes attached to a different chromosome or to a different part of the same chromosome |
| simple translocation | a single piece of chromosome is attached to another chromosome |
| reciprocal translocation | two different (non-homologous) chromosomes exchange pieces, altering both of them |
| terminal deletion | a normal chromosome has broken into 2 pieces. The piece w/o the centromere will be lost from future daughter cells bc it does not find its way into the nucleus following mitosis, and is then degraded in the cytosol. The other piece is a chromosome with a |
| intersitital deletion | a chromosome has broken in two places to produce three chromosomal fragments. The central fragment is lost, and the two outer pieces reattach to each other. |
| repetitive sequences | a chromosome may carry two or more homologous segments of DNA that have identical or similar sequences and can cause misalignment |
| nonallelic homologous recombination | A misaligned crossover occurred due to the repetitive sequences. The result is that one chromatid has a duplication and another chromatid has a deletion |
| gene duplication | the resulting chromosome with the extra genetic material carries _____, because the number of copies of gene C has been increased from one to two |
| gene family | consisting of two or more genes in a particular species that are similar to each other. |
| homologous | two or more genes are derived from a single ancestral gene |
| paralogs | Homologous genes within a single species |
| copy number variation (CNV) | a structural variation in which a segment of DNA, which is 1000 bp or more in length, commonly exhibits copy number differences among members of the same species. In other words, copy number variation is a phenomenon that occurs at the population level. |
| comparative genomic hybridization (CGH) | This technique can be used to determine if cancer cells have changes in chromosome structure, such as deletions or duplications |
| pericentric inversion | the centromere lies within the inverted region of the chromosome, the inverted region is known as a ____ |
| paracentric inversion | the centromere is found outside the inverted region, the inverted region is called a _____ |
| position effect | a change in phenotype that occurs when the location of a gene changes from one chromosomal site to a different one. |
| inversion heterozygote | An individual carrying one normal copy of a chromosome and one copy of the chromosome with an inversion, have a high probability of producing haploid cells that are abnormal in their total genetic content. |
| inversion loop | the structure during an inversion attempts to pair with its normal homologous chromosome during meiosis, can lead to abnormal gametes if crossing over occurs within the loop. |
| acentric fragment | a piece of chromosome without any centromere, which is lost and degraded in subsequent cell divisions |
| dicentric chromosome | contains two centromeres |
| dicentric bridge | The region connecting the two centromeres in a dicentric chromosome |
| telomeres | specialized repeated sequences of DNA—are found at the ends of normal chromosomes, allow cells to identify where a chromosome ends and prevent the attachment of chromosomal DNA to the natural ends of a chromosome. |
| balanced translocations | The reciprocal translocations in which the total amount of genetic material is not altered, can result in position effects |
| unbalanced translocation | carriers of a balanced translocation are at risk of having offspring with an ______, in which a significant portion of genetic material is duplicated/deleted, generally associated with phenotypic abnormalities or may even be lethal (e.g. Down syndrome) |
| Robertsonian translocation | breaks near the centromeres of two nonhomologous acrocentric chromosomes (e.g. Down syndrome) |
| translocation cross | the pairing of homologous regions leads to the formation of an unusual structure that contains four pairs of sister chromatids during meiosis |
| semisterility | the haploid cells from adjacent-1 segregation are not viable, thereby lowering the fertility of the individual. |
| euploid | a chromosome number that is an exact multiple of a chromosome set, have the same number of each type of chromosome (with the possible exception of the sex chromosomes) |
| personalized medicine | the use of information about a patient's genotype and other clinical data in order to select a medication, therapy, or preventative measure |
| dizygotic (DZ) twins | form from separate pairs of sperm and egg cells, nonidentical twin |
| concordance | the degree to which a disorder is inherited, by calculating the percentage of twin pairs in which both twins exhibit the disorder relative to pairs where only one twin show the disorder |
| incomplete penetrance | the symptoms associated with the disorder are not always produced |
| age of onset | at which symptom first appear |
| simple Mendelian inheritance | a human disorder is caused by a mutation in a single gene |
| autosomal | the gene associated with the disease is on an autosome, not on the sex chromosome |
| recessive | traits that are expressed in a homozygote but are masked in a heterozygote carrying a dominant allele |
| haploinsufficiency | a person has only a single functional of a gene, and that single functional copy does not produce a normal phenotype |
| genetic testing | the use of testing methods to determine if an individual carries a genetic abnormality |
| genetic screening | the population-wide genetic testing |
| noninvasive prenatal testing (NIPT) | collecting blood sample from a pregnant female and analyzing cell-free DNA (cfDNA) |
| monozygotic (MZ) twins | identical twins |
| aminocentesis | amniotic fluid containing fetal cells is removed using a needle that is passed through the abdominal wall |
| chorionic villus sampling | a small pieces of the chorion (the fetal part of the placenta) is removed, and a karyotype is prepared directly from the collected cells |
| preimplantation genetic diagnosis (PGD) | a method of genetic testing performed prior to birth, conducted before pregnancy even occurs |
| in vitro fertilizations (IVF) | a process in which sperm and egg are mixed together in a laboratory and then fertilization occurs there |
| prions | a disease-causing agent composed of entirely protein, a proteinaceous infectious agent (virus with genetic material in DNA or RNA) |
| pedigree analysis | determine the inheritance patterns of human diseases |
| autosomal reccessive | a pattern of genetic inheritance where a disorder only develops when an individual inherits two copies of a mutated gene, one from each parent, meaning both parents must be carriers of the gene even if they don't show the disorder themselves |
| autosomal dominant | a pattern of genetic inheritance where only one copy of a mutated gene on a non-sex chromosome (autosome) is needed from one parent to cause a genetic disorder, |
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