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The Human Genome
Review of multiple choice questions from exams 1-3 for final
60
Chemistry
Undergraduate 2
05/04/2014

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Term
Sex-linked recessive disorders are more common
Definition
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.
Term
If a diploid cell for a dog has 78 chromosomes, then a haploid cell would have
Definition
39 chromosomes.
Term
A monosomy is most likely to be found
Definition
in the X-chromosome in humans.
Term
Chargaff
Definition
determined the approximate amounts of bases (A, G, C, T) relative to each other in DNA.
Term
The leading strand is (x3)
Definition
-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)
Term
Hydrogen bonds connect
Definition
the base pairs in the DNA double helix.
Term
An individual who has two copies of the same allele is said to be
Definition
homozygous.
Term
DNA replication is called
Definition
semiconservative because half of the original double helix appears in the newly formed helix upon a single round of replication.
Term
Levene
Definition
discovered the nucleotide composition and deoxyribose as the sugar molecule that helped lay the foundation for Watson and Crick's DNA model
Term
Topoisomerases
Definition
are enzymes/proteins essential for DNA replication because they assist in the unwinding of the DNA double helix.
Term
In terms of organizing DNA, the largest is
Definition
chromosomes.
Term
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
Definition
all have short haired fur.
Term
Flaws of eugenics research (x3)
Definition
-assumed that complex disorders had simple inheritance patterns
-relied on data collection by untrained individuals or biased researchers
-ignored the environmental factors
Term
If the sequence of one strand of a DNA molecule is 5'-ATGGCAT-3', the sequence of the complementary strand is
Definition
3'-TACCGTA-5'
Term
If human DNA contains 30% adenine, then the percentage of thymine would be
Definition
30%.
Term
The experiments done by Oswald Avery, Maclin McCarty, and Colin MacCleod (1944)
Definition
utilized enzymes to breakdown the different possible candidates: DNA, RNA, and proteins.
Term
The term phenotype refers to
Definition
the appearance of a trait in an individual.
Term
Independent assortment can NOT be demonstrated in a monohybrid cross because
Definition
you must examine the transmission of two or more genes.
Term
In the transformation observed by Griffith
Definition
a mixture of heat-killed S strain bacteria and R strain bacteria killed the mice.
Term
Preimplantation genetic diagnosis is
Definition
a prenatal test done for detecting chromosomal abnormalities before an embryo is implanted.
Term
Mutations at the DNA level (x3)
Definition
-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
Term
The direct product of translation is
Definition
a protein.
Term
Three substances involved in transcription are
Definition
DNA, mRNA, and RNA polymerase.
Term
The process of translation ends when
Definition
a stop codon is added to the protein chain.
Term
RNA splicing occurs
Definition
after transcription and results in the removal of introns from the RNA sequence.
Term
RNA differs from DNA (x3)
Definition
-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
Term
A codon (x3)
Definition
-consists of three nucleotides
-may code for the same amino acid as another codon
-never codes for more than one amino acid
Term
Regarding genetically engineered plants, currently
Definition
there are serious biological and environmental issues regarding their use.
Term
In recombinant DNA technology,
Definition
DNA ligase may be used to join sections of DNA together.
Term
Polymerase Chain Reaction (PCR) is
Definition
a technique similar to a molecular copy machine for DNA.
Term
In the Sanger method of DNA sequencing,
Definition
DNA synthesis stops when a dideoxynucleotide (ddNTP) is incorporated.
Term
Polymerase chain reaction (PCR) can be conveniently performed because
Definition
Taq polymerase is not damaged by heating.
Term
Plasmids are
Definition
circular pieces of DNA that can be used to carry foreign DNA cells such as bacteria.
Term
Insulin was targeted as the first genetically engineered drug because
Definition
people sometimes had an adverse reaction to the porcine or bovine insulin that was available.
Term
mRNA is modified after it is transcribed by (x3)
Definition
-adding the poly-A tail
-adding a 5' cap
-removing the introns
Term
Restriction enzymes are used (x3)
Definition
-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
Term
Francis Collins
Definition
served as the second director of the public Human Genome Project and is the current head of the NIH.
Term
Sickle cell anemia is caused by
Definition
a single base substitution resulting in the incorporation of the wrong amino acid into the protein.
Term
rRNA is
Definition
the structural and functional component of the ribosome
Term
Beadle and Tatum's experiment
Definition
identified that one gene specifies the production of a particular enzyme using bread mold.
Term
DNA technology is used for many medical applications such as (x3)
Definition
-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)
Term
Gene therapy is
Definition
the process used to insert genes into human cells to correct disorders.
Term
Huntington's disease (x3)
Definition
-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)
Term
Gene therapy targeting the germ-line
Definition
is heritable.
Term
The most controversial type of cells are
Definition
embryonic stem cells.
Term
The disadvantage of adult stem cells over embryonic stem cells is because
Definition
they are difficult to locate.
Term
The death of Jesse Gelsinger
Definition
was considered a major setback for the advancement of gene therapy.
Term
Genome Wide Association Studies (GWAS) (x3)
Definition
-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)
Term
Reasons why DNA extracted from fossils to understand human origins are not always suitable for sequencing because (x2)
Definition
-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
Term
Blood stem cells are
Definition
multipotent.
Term
Proteomics is
Definition
the study of the collection of proteins produced in a particular cell.
Term
The two properties of mitochondrial DNA that molecular anthropologists find valuable are that
Definition
-it is passed from mother to child
-it is more abundant than nuclear DNA
Term
Mitochondrial DNA is
Definition
the genetic information that can be used to trace maternal lineage.
Term
Shinya Yamanaka is credited with
Definition
the discovery of iPS cells.
Term
Huntington's disease is caused by
Definition
an expanding triplet repeat.
Term
Epigenetic changes
Definition
affect the availability of genes for expression.
Term
During enzyme replacement therapy
Definition
a functional form of the enzyme is supplied to the patient.
Term
Induced pluripotent stem cells (iPS cells) are
Definition
adult somatic cells reprogrammed to assume a stem cell-like state.
Term
Molecular cloning is
Definition
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.
Term
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
Definition
that the non-coding regions are in fact very active, containing the switched that control/regulate gene activity.
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