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Sickle Cell
Biology sickle cell unit study guide
| Question | Answer |
|---|---|
| DNA structure | double stranded molecule, helical shape |
| nucleotides are made of what? | sugar, phosphate, and nitrogenous bases |
| hydrogen bonds do what? | hold bases together |
| Chargaff DNA discovery | discovered the composition of DNA (identified pattern of base pairing A-T and C-G) |
| Franklin DNA discovery | discovered the double helix structure (x-ray crystallography) |
| Watson and Crick DNA discovery | discovered the double helix structure (build a model of double helix structure) |
| who was Griffith? | scientist who was interested in generating a vaccine against a type of bacteria that causes pneumonia |
| how did the Hershey-Chase experiment determine that DNA was a genetic material? | by tracking where the radioactive isotopes ended up after infection |
| RNA structure | single stranded molecule, uracil replaces thymine |
| chromosome structure | DNA wrapped around histones from nucleosomes, compacted/coiled tightly into single-chromatid chromosomes, DNA is replicated during S phase of cell cycle into double-chromatid chromosomes- sister chromatids held together at centromere |
| what is semi-conservative replication? | each new molecule of DNA has one old strand (conserved) and one new strand |
| what is a leading strand? | the DNA polymerase follows directly behind the helicase enzyme |
| what is the lagging strand? | the DNA polymerase makes short segments of DNA called Okazaki fragments, which are then connected by DNA ligase enzyme |
| what enzymes are involved in replication? | helicase, DNA polymerase, and ligase |
| helicase | unwraps the DNA double helix by breaking the hydrogen bonds between complementary paired nucleotides |
| DNA polymerase | synthesizes new daughter DNA strands using the information in the template strand |
| ligase | links together Okazaki fragments on the lagging strand |
| genes | sections of chromosomes that code for proteins |
| the central dogma | genetic information flows in one direction (DNA->RNA->protein) |
| what is gene expression? | the series of events within a cell that takes the information within the DNA and produces the protein (or RNA) molecules |
| what is a protein? | a molecule made up of amino acids |
| examples of proteins | hemoglobin, insulin, melanin, lactase, helicase, polymerase |
| protein structures | primary, secondary, tertiary, quaternary |
| primary structure | the linear sequence of amino acids |
| secondary structure | amino acids interact based on weak chemical interactions |
| tertiary structure | 3-D model, functional |
| quaternary structure | multiple protein chains interact to form larger molecules with more complex functions |
| polypeptide | chain of amino acids |
| DNA mutations are handed down when? | during the formation of gametes |
| hemoglobin | protein found in red blood cells |
| how is hemoglobin structured? | quaternary level protein because it has 4 tertiary polypeptide chains called globins |
| 2 forms of globins | alpha and beta |
| what does hemoglobin do? | the iron allows it to pick up oxygen from the air we breathe and deliver it everywhere in the body |
| how do sickle-shaped red blood cells impact body systems? | causes constant shortage of red blood cells |
| lungs | blocked capillaries result in decreased supply and exchange of oxygen |
| what is gas exchange? | oxygen is exchanged for carbon dioxide |
| alveoli covered in capillaries | site of O2 and CO2 diffusion and exchange |
| circulatory system | red blood cells carrying O2 and CO2 |
| capillaries | tiny blood vessels that transport blood, nutrients, and oxygen to cells |
| arterioles | small blood vessels that carry blood away from the heart and are connectors between the arteries and capillaries |
| venules | small veins collecting blood from the capillaries |
| what is anemia? | not having enough red blood cells to carry oxygen to the body's tissues |
| how does anemia relate to sickle-cell disease? | it relates because the sickle-shaped cells are not healthy therefore there are less healthy blood cells, which results in the person becoming anemic |
| transcription | enzyme: RNA polymerase, mRNA made from DNA template strand, insertions, deletions, frameshifts possible |
| translation | mRNA, tRNA, ribosomes, amino acids, functioning polypeptides |
| codons | series of 3 bases read in sequence |
| each codon represents what? | an amino acid from the genetic code table |
| why do we say the genetic code is redundant, unambiguous, universal? | all living things universally have the same genetic code, it's unambiguous because each codon codes for just one amino acid, and it's redundant because more amino acids are encoded by more than one codon |
| meiosis | specialized division involving germ-line cells found in ovaries or testes; goal is to produce genetically diverse/unique gametes |
| reduction division | reduces number of chromosomes by half in resulting gametes |
| gametes | gender neutral term for sperm or egg |
| gonads | gender neutral term for ovaries or testes |
| phases of meiosis | meiosis I - P1, M1, A1, T1, cytokinesis 1; homologous pairs pulled part; cells become haploid meiosis II - P2, M2, A2, T2, cytokinesis 2; sister chromatids pulled apart; final sperm or egg cells produced |
| purpose of meiosis | to reduce chromosome number in half and to create genetic diversity |
| how is genetic diversity created? | synapsis, crossing over, recombination, independent assortment |
| diploid cells | undergo mitosis and have two set of chromosomes, results in 2 identical cells |
| haploid | undergo meiosis and have one set of chromosomes, results in 4 diverse cells |
| how many chromosomes are there in a human germ-line cell? | 23 |
| how many chromosomes are there in a human gamete? | 23 |
| what are homologous chromosomes? | each has the same genes in the same order, but there may be a variation between them resulting in different alleles |
| what are sister chromatids? | duplicated copies of a single chromosome that are attached to each other and are identical |
| at the end of meiosis I, are the cells haploid or diploid, why? | haploid because they are diverse |
| how many haploid gametes are produced at the end of meiosis II? | four |
| who was Gregor Mendel and what did he study? | a scientist who studied traits in flowering pea plants |
| allele | variation of a single gene (differences in nucleotides) |
| homozygous | inherited the same alleles of a genomic marker from each biological parent (BB or bb) |
| heterozygous | inherited different alleles of a genomic marker from each biological parent (Bb) |
| genotype | genetic makeup of an organism (1HH homozygous: 2Hh heterozygous, 1hh homozygous) |
| phenotype | set of observable physical characteristics (1 blue: 2 green: 1 yellow) |
| dominant | will show over the recessive allele (Hh or HH) |
| recessive | will not show over the dominant allele (only hh) |
| wild type trait | most often seen in nature, but can be either dominant or recessive |
| autosome | numbered chromosomes for any trait besides the sex |
| incomplete dominance | neither allele in homologous pair is dominant over the other, an intermediate trait can appear when the genotype is heterozygous (curly hair+straight hair=wavy hair) |
| co-dominance | one does not dominate over the other (A+B=AB) |
| pleiotropy | one gene affects many traits |
| polygenic traits | one trait, many genes will observe continuous variations of trait (height, skin color, eye color, hair color) |
| what is a punnet square? | shows possible gametes for possible offspring and possible outcomes of genetic crosses |
| monohybrid cross | following one trait |
| dihybrid cross | following more than one trait |
| what ratios do we typically observe for a trait that follows the patterns of simple dominance (mendelian inheritance)? | 3:1 |
| what ratios would you find if you crossed two heterozygotes? | 1 homozygous: 2 heterozygous: 1 homozygous |
| simple mendelian inheritance | inheritance of traits that are controlled by a single gene with two alleles |
| non-mendelian inheritance | inheritance of traits that are more complex genetic basis |
| what is the law of segregation | each individual has two factors for each trait and these factors separate during the formation of the gametes, each individual has two factors for each trait, but it produces gametes that only have one factor for each trait |
| law of independent assortment | inheritance of one characteristic has no effect on the inheritance of another |
| what is a pedigree? | a diagram of family history traits |
| how do you read a square, circle or shading within a pedigree? | square or circle is for gender and whether it is shaded or not is if they have the trait. depends on the key |
| how can a pedigree be used to predict genotypes? predict gene dominance, recessiveness, or sex linked? | tracing the trait through the family |
| multiple alleles of a gene | ABO blood typing |
Created by:
SavDan
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