Genetics Final Exam – Flashcards
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Nonsense mutation |
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| a point mutation that changes an amino acid coding codon into a stop codon, prematurely terminating synthesis of the encoded protein |
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| Missense Mutation |
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| a single base change mutation that alters an amino acid |
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| Spontaneous Mutation |
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| a genetic change that results from mispairing when the replication machinery encounters a base in its rare tautomeric form. |
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tautomer |
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| structural isomer of each base form as a result of spontaneous transient rearrangement of bonds |
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| Induced mutation |
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| when chemicals or radiation are used in order to cause a mutation ( caused by mutagens) |
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| base analog |
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| a chemical that can substitute for a normal nucleobase |
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| frameshift |
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| a mutation that alters a gene's reading frame |
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| insertion mutation |
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| Adds DNA bases |
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| deletion mutation |
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| removes genetic material ...a deletion that removes 3 or more bases will not cause a framshift but can still alter the phenotype |
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| point mutation |
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change in a single DNA base 2 types transition: purine for purine A.G or C to T transversion: purine for pyrimidine a or g;;;;;; t or c |
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| Euploid |
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| a somatic cell with the normal number of chromosomes for the species |
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| aneuploid |
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| a cell with one or more extra or missing chromosomes |
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| inversions |
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| breakage and reunion of fragment in same chromosome, but with wrong orientation |
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| translocation |
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| exchange between non homologous chromosomes |
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| ploidy |
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extra chromosome sets-polyploidy aneuploidy 1 extra chromosome trisomy 1 missing chromosome monosomy |
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| nondisjunction |
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| the unequal partitioning of chromosomes into gametes during meiosis |
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| Turner's Syndrome |
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lacking an X chromosome do not ovulate or menstruate, undeveloped breasts, low thyroid function |
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| Down Syndrome |
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trisomy 21 broad tilted eyes, sunken nose usually dont make it past 40 |
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| Klinefelter syndrome |
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having an extra X chromosome in males long arms and legs, sexually underdeveloped, little hair most common cause of male infertility slower to learn |
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| uniparental disomy |
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| occurs when a person receives two copies of a chromosome or part of a chromosome from one parent and no copies from the other parent |
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| promoter |
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| a control sequence near the start of the gene |
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| intron |
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| part of a gene that is transcribed but is excised from the mRNA before translation into protein |
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| apoptosis |
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| a form of cell death that is a normal part of growth and development |
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| oncogene |
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| a gene that normally controls the cell cycle, but causes cancer when overexpressed |
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| proto-oncogene |
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| a gene that normally controls the cell cycle. when overexpressed, it functions as an oncogene causing cancer |
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| tumor suppressor gene |
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| a recessive gene whose normal function is to limit the number of divisions a cell undergoes |
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| polyglutamine disease |
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| trinucleotide repeat disorders |
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| anticipation |
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| symptoms of SCA become more severe and have earlier onsets of subsequent generations |
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| loss of heterozygosity |
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| loss of a normal function of one allele of a gene in which the other allele was already inactivated |
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| Griffith experiments |
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virulent cause pneumonia and heat killed s is non vbirulent smooth
rough non vireulent in r strain does not cause pneumonia |
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| transformation in griffith ecperiment |
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| genetics information from the heat killed s cells was transferred to the r cells, transforming them to virulence |
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SNP single nucleotide polymorphism |
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| 1 base pair changed in the DNA |
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STR short tandom repeat |
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2 or more bases how many times its repeated in a sequence of DNA |
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| incomplete penetrance |
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one allele partially masks phenotype of the other allele all 3 genotypes phenotypically distinct red and white flowers makes pink |
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| co dominace |
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| heterozygote both phenotypes AB blood type |
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| comparative genomics |
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| the study of the relationship of a genome structure and function across different biological species or strains |
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| DNA microarray |
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multiplex technology used in molecularbiology and in medicine 1000 spots of oligonucleotides |
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| DNA microarray |
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multiplex technology used in molecularbiology and in medicine 1000 spots of oligonucleotides |
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| antigen |
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| a molecule that elicits an immune respose |
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| antibody |
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| a multisubunit protein produced by b cells that binds a specific foreign atigen at one end, alertin the immune system or directly destroying the antigen |
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| rh factor |
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| protein substance present in red blood cells |
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| histocompatibility antigens |
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| Any of the genetically determined antigens on the surface of cell membranes that serve to identify a cell as self or nonself. These antigens determine whether a tissue graft will be accepted by an organ transplant recipient. |
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| HLA complex |
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| The major histocompatibility complex of humans. |
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| haplotype |
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| A set of alleles of closely linked loci on a chromosome that tend to be inherited together; commonly used in reference to the linked genes of the major histocompatibility complex. |
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| plasmid |
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| small circle of double stranded DNA found in some bacteria. used as a vector in recombinant DNA technology |
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| reverse transcriptase |
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| A polymerase that mediates deoxyribonucleic acid synthesis by using a ribonucleic acid template. |
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| polymerase chain reaction |
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| a nucleic acid amplification technique in which a DNA sequence is replicated in a test tube to rapidly produce many copies |
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| sticky end |
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| Any of the single-stranded complementary ends of a deoxyribonucleic acid molecule. Also known as cohesive end. |
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| restriction enzyme |
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| each recognizes a specific nucleotide sequence. In the living bacterial cell, these enzymes destroy the DNA of certain invading viruses |
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| recombinant DNA |
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| Deoxyribonucleic acid (DNA) that has been altered (caused to recombine) by rearrangement of its sequence, addition or deletion of DNA segments, or introduction of foreign DNA segments |
