The Human Genome – Flashcards
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| The leading strand is (x3) |
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| -replicated continuously -only needs one RNA primer -is synthesized in the 5' to 3' direction (it is NOT the only strand that is replicated as the lagging strand is also replicated) |
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| Hydrogen bonds connect |
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| the base pairs in the DNA double helix. |
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| An individual who has two copies of the same allele is said to be |
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| homozygous. |
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| DNA replication is called |
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| semiconservative because half of the original double helix appears in the newly formed helix upon a single round of replication. |
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| Levene |
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| discovered the nucleotide composition and deoxyribose as the sugar molecule that helped lay the foundation for Watson and Crick's DNA model |
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| Topoisomerases |
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| are enzymes/proteins essential for DNA replication because they assist in the unwinding of the DNA double helix. |
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| In terms of organizing DNA, the largest is |
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| chromosomes. |
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| Black fur (B) is dominant and white (b) is recessive. Short haired fur (S) is dominant and long haired fur (s) is recessive. Genotypes of the parents = BbSs and bbSS. The phenotype of the offspring will |
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| all have short haired fur. |
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| Flaws of eugenics research (x3) |
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| -assumed that complex disorders had simple inheritance patterns -relied on data collection by untrained individuals or biased researchers -ignored the environmental factors |
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| If the sequence of one strand of a DNA molecule is 5'-ATGGCAT-3', the sequence of the complementary strand is |
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| 3'-TACCGTA-5' |
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| If human DNA contains 30% adenine, then the percentage of thymine would be |
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| 30%. |
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| The experiments done by Oswald Avery, Maclin McCarty, and Colin MacCleod (1944) |
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| utilized enzymes to breakdown the different possible candidates: DNA, RNA, and proteins. |
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| The term phenotype refers to |
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| the appearance of a trait in an individual. |
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| Independent assortment can NOT be demonstrated in a monohybrid cross because |
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| you must examine the transmission of two or more genes. |
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| In the transformation observed by Griffith |
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| a mixture of heat-killed S strain bacteria and R strain bacteria killed the mice. |
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| Preimplantation genetic diagnosis is |
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| a prenatal test done for detecting chromosomal abnormalities before an embryo is implanted. |
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| Mutations at the DNA level (x3) |
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| -mutations to DNA may be caused by environmental factors (exposure to UV radiation - epigenetics) -though mutations do occur, the complex machinery of DNA has built in mechanisms to correct many of the errors -substitutions that occur may or may not result in an observable error when the DNA is translated to proteins |
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| The direct product of translation is |
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| a protein. |
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| Three substances involved in transcription are |
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| DNA, mRNA, and RNA polymerase. |
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| The process of translation ends when |
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| a stop codon is added to the protein chain. |
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| RNA splicing occurs |
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| after transcription and results in the removal of introns from the RNA sequence. |
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| RNA differs from DNA (x3) |
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| -in DNA adenine pairs with thymine but in RNA adenine pairs with uracil -the DNA sugar is deoxyribose but the RNA sugar is ribose -DNA is double stranded but RNA is single stranded |
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| A codon (x3) |
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| -consists of three nucleotides -may code for the same amino acid as another codon -never codes for more than one amino acid |
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| Regarding genetically engineered plants, currently |
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| there are serious biological and environmental issues regarding their use. |
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| In recombinant DNA technology, |
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| DNA ligase may be used to join sections of DNA together. |
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| Polymerase Chain Reaction (PCR) is |
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| a technique similar to a molecular copy machine for DNA. |
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| In the Sanger method of DNA sequencing, |
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| DNA synthesis stops when a dideoxynucleotide (ddNTP) is incorporated. |
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| Polymerase chain reaction (PCR) can be conveniently performed because |
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| Taq polymerase is not damaged by heating. |
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| Plasmids are |
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| circular pieces of DNA that can be used to carry foreign DNA cells such as bacteria. |
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| Insulin was targeted as the first genetically engineered drug because |
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| people sometimes had an adverse reaction to the porcine or bovine insulin that was available. |
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| mRNA is modified after it is transcribed by (x3) |
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| -adding the poly-A tail -adding a 5' cap -removing the introns |
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| Restriction enzymes are used (x3) |
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| -to cut a plasmid so a gene of interest can be inserted -to cut a gene of interest from a strand of DNA -to attack invading foreign DNA when it enters a host |
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| Francis Collins |
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| served as the second director of the public Human Genome Project and is the current head of the NIH. |
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| Sickle cell anemia is caused by |
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| a single base substitution resulting in the incorporation of the wrong amino acid into the protein. |
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| rRNA is |
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| the structural and functional component of the ribosome |
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| Beadle and Tatum's experiment |
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| identified that one gene specifies the production of a particular enzyme using bread mold. |
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| DNA technology is used for many medical applications such as (x3) |
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| -prenatal identification of genetic disease genes -genetic testing for carriers of harmful alleles -production of viral vectors for use in gene therapy (NOT used for introduction of genetically engineered genes into human sperm and egg cells) |
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| Gene therapy is |
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| the process used to insert genes into human cells to correct disorders. |
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| Huntington's disease (x3) |
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| -the first disease-causing gene mapped to a specific chromosome using linkage analysis -genetic testing is available for individuals with a family history of the disease -autosomal dominant disorder (immediately after it was mapped the cause of the disease was NOT determined) |
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| Gene therapy targeting the germ-line |
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| is heritable. |
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| The most controversial type of cells are |
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| embryonic stem cells. |
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| The disadvantage of adult stem cells over embryonic stem cells is because |
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| they are difficult to locate. |
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| The death of Jesse Gelsinger |
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| was considered a major setback for the advancement of gene therapy. |
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| Genome Wide Association Studies (GWAS) (x3) |
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| -seek to identify naturally occurring single nucleotide polymorphisms (SNPs) and determine how these are distributed across populations -rely on studying the genomes of both healthy and diseased individuals to correlate SNPs with instances of disease -allow for linking a disease to multiple genes (NO indication that two disorders with different symptoms are linked to a single gene) |
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| Reasons why DNA extracted from fossils to understand human origins are not always suitable for sequencing because (x2) |
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| -the DNA that is extracted will have been degraded by microorganisms and water, making it fragmented and damaged -the DNA may be contaminated by the researchers making it difficult to know what is ancient versus modern DNA |
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| Blood stem cells are |
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| multipotent. |
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| Proteomics is |
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| the study of the collection of proteins produced in a particular cell. |
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| The two properties of mitochondrial DNA that molecular anthropologists find valuable are that |
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| -it is passed from mother to child -it is more abundant than nuclear DNA |
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| Mitochondrial DNA is |
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| the genetic information that can be used to trace maternal lineage. |
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| Shinya Yamanaka is credited with |
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| the discovery of iPS cells. |
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| Huntington's disease is caused by |
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| an expanding triplet repeat. |
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| Epigenetic changes |
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| affect the availability of genes for expression. |
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| During enzyme replacement therapy |
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| a functional form of the enzyme is supplied to the patient. |
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| Induced pluripotent stem cells (iPS cells) are |
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| adult somatic cells reprogrammed to assume a stem cell-like state. |
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| Molecular cloning is |
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| the introduction of a gene into a foreign cell through the use of a vector that will serve in the production of large quantities of the product encoded by the gene. |
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| From the Human Genome Project the most recent discovery which has altered our understanding of the non-coding regions of DNA (formerly known as junk DNA) is |
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| that the non-coding regions are in fact very active, containing the switched that control/regulate gene activity. |
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