The Human Genome – Flashcards

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Sex-linked recessive disorders are more common
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in males than in females because any male receiving a recessive allele from his mother will express that trait because males only have one copy of the X-chromosome.
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If a diploid cell for a dog has 78 chromosomes, then a haploid cell would have
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39 chromosomes.
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A monosomy is most likely to be found
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in the X-chromosome in humans.
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Chargaff
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determined the approximate amounts of bases (A, G, C, T) relative to each other in DNA.
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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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