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Mole. Diagnos. Exams
Exams 1-3
| Question | Answer |
|---|---|
| DNA replication proceeds with the new daughter strand synthesized in the following orientation: | 5′ to 3' |
| Nucleic acids are injected into the capillary in capillary electrophoresis by which of the following methods? | Electrokinetic |
| The purpose of endonucleases is to: | cut DNA within the double helix |
| DNA sequences that are involved in the regulation of gene expression are called: | cis factors |
| Which of the following is a purine? | Adenine and Guanine |
| When gene expression is regulated by mechanisms other than the interaction of cis elements and trans factors, the regulation is called: | epigenetics |
| Diethyl pyrocarbonate (DEPC) is a chemical that is used to: | inactivate RNAses |
| All but two amino acids are encoded by more than one codon, thus making the genetic code: | redundant |
| A protein that has lost its tertiary structure is called: | denatured |
| Which DNA sequence is homologous to 5′GATTCTCAAAGGACT3′? | 3′CTAAGAGTTTCCTGA5′ |
| Isolated DNA has an absorbance at 260 nm of 0.268 and an absorbance at 280 nm of 0.191. What is the 260 nm/280 nm ratio? Answer | 1.4 |
| Which of the following is not an example of pulse–field gel electrophoresis? | Polyacrylamide gel electrophoresis |
| The fundamental physical and functional unit of inheritance that encodes a functional product is a: | gene |
| In order to increase the density of a sample relative to the density of the buffer prior to loading the sample into a gel, which of the following is added to the sample? | Glycerol |
| In organic DNA extraction methods, the DNA is found in which fraction? | Upper aqueous |
| The process of protein synthesis is also called: | translation |
| When PicoGreen was used to quantitate the nucleic acid, there was no fluorescence in the sample. What type of nucleic acid was isolated? | Total RNA |
| Which of the following molecules will migrate the fastest in capillary electrophoresis? | Small and negatively charged |
| Alpha helices and beta-pleated sheets are what level of protein structure? | Secondary |
| The RNA polymerase holoenzyme consists of which of the following? | α2,β,β′σ |
| DNA quality can be assessed relatively simply and quickly by which of the following procedures? | Electrophoresis |
| The nucleotides in a single strand of DNA are held together by which of the following bonds? | Phosphodiester |
| In translation, what is the starting material, ending material, and the major enzyme that catalyzes the process? | RNA, protein, peptidyl transferase |
| In inorganic DNA isolation or “salting out” procedures, in the presence of low pH and high salt concentrations, which intracellular component precipitates out of solution? | Protein |
| Which of the following enzymes will untangle DNA? | Helicase |
| The sequence of DNA in a gene that codes for a protein is what kind of sequence? | Structural |
| Nucleic acids migrate toward which pole in electrophoresis? | Anode |
| In the lactose operon, which of the following configurations would result in gene expression? | Promoter +, Operator +, Repressor -, no inducer present |
| RNA is degraded by: | ribonucleases |
| The 260 nm/280 nm ratio for isolated DNA was determined to be 1.2. What should be done next with this sample? | Reprecipitate the DNA to remove excess protein. |
| The most abundant form of RNA in all cells is: | ribosomal |
| Which of the following would prevent transcription of the lactose operon? | Loss of promoter |
| What is the yield of DNA from the sample described in Question 11 when the sample has a volume of 0.5 mL? | 37.5 μg |
| Which of the following molecules polymerize to form a support medium through which nucleic acids move? | Polyacrylamide |
| The functions of which of the following include carrying the current and protecting the sample nucleic acids during electrophoresis? | Tris acetate EDTA |
| DNA replication requires the presence of: | DNA template |
| A molecular biologist needs to separate a mixture of oligonucleotides with a resolution between bands of 1 bp. Which of the following methods should be used? | Polyacrylamide gel electrophoresis |
| Which of the following properties is true for ethidium bromide? | Intercalates between nitrogen bases |
| In DNA replication, where does replication begin and end? | Origin of replication; end of the molecule |
| Adenine, thymine, guanine, and cytosine are what components of DNA? | Nitrogen bases |
| Which of the following can be used to detect the location of DNA bands in a gel after electrophoresis? | SyBr green |
| Which of the following types of RNA is directly involved in removing introns from RNA in eukaryotes? Answer | Small nuclear |
| DNA replication is: | semiconservative |
| The term used to describe the arrangement of the individual strands in the double-stranded DNA molecule is: | antiparallel |
| Given the following sequence of mRNA, what is the corresponding amino acid sequence? 5′AUGCAUAACUCUGCU3′ | MHNSA |
| Which of the following are used to make wells in a solidifying gel into which samples are loaded? | Combs |
| In sexual recombination, new combinations of genes are created by which of the following processes? | Crossing over |
| In an RNA molecule, adenine always base-pairs with: | uracil |
| The chemical nature of alanine, leucine, phenylalanine, and tryptophan is described as: | nonpolar |
| If the following oligonucleotide of double-stranded DNA was transcribed, what would be the sequence of the RNA? 5′TGCTAGCTA3′ 3′ACGATCGAT5′ | 5′UGCUAGCUA3′ |
| Chromosomes are divided into different parts, and locations are denoted by numbers corresponding to the different parts in which of the following orders? | Chromosome, region, band, sub-band |
| Examination of chromosomes in karyotypes is performed on chromosomes in what stage of mitosis? | Metaphase |
| The karyotype of a normal male is designated by which of the following? | 46, XY |
| SSCP) procedure has been performed on a patient sample, were compared with SSCP a normal reference sample. The patient bands resolved in different locations on the gel as compared with the reference bands. These results would be interpreted as? | The patient has a mutation in the targeted region |
| A chromosome that has the centromere in the center of the chromosome is called: | metacentric |
| A Sanger sequencing procedure is perform on 300bp DNA. When run on the gel, there were bands distribut in lanes corresponding to ddTTP, ddCTP, and ddATP. ddGTP lane, was one large band at the bottom. What's interpretation of results? Answer | No dGTP was added to the reaction mix. |
| A DNA change that affects the structure of entire chromosomes is which type of mutation? | Chromosome |
| A technologist performs fluorescence in situ hybridization (FISH) on interphase chromosomes using a probe to chromosome 21. In all cells examined, two signals were seen. These results are interpreted as: | Normal |
| Human chromosomes are described as which of the following with regard to the location of the centromere? | Acrocentric |
| Which of the following methods is the most definitive method for detecting and identifying mutations? | Sequencing |
| A reference segment of DNA has the following sequence: GCTCACCATGG. Insertion of AG occurs between positive 7 and 8 in a particular genetic disease. How is this mutation denoted by accepted nomenclature? Answer | 7_8insAG |
| hepatitis C virus (HCV), which has been identified in a patient, derivative of fluorescence was plotted versus the temperature for the patient's isolate as well as for a known genotype of HCV, two sequences had identical peaks and same Tms. | The patient's HCV genotype is the same as the known genotype. |
| Which of the following methods can be used to screen for the presence of unknown mutations? | Single-strand conformation polymorphism |
| In a C banding pattern, what part of the chromosome stains? | Centromere |
| The short arm of the chromosome is designated as which of the following? | p |
| Which of the following methodologies was used in the Human Haplotype Mapping Project? | Sequence-specific PCR |
| Which of the following methods has the highest sensitivity, specificity, and accuracy as far as detecting mutations in clinical applications? | PCR-RFLP |
| The goal of the HapMap project is which of the following? | Find blocks of sequences that are inherited together |
| Sequencing gels are read in which of the following directions? | Bottom to top |
| A chromosome formed when parts of two or more chromosomes are joined to a third normal chromosome is called a(n): | Derivative chromosome |
| In the Sanger sequencing method, which of the following when incorporated into the growing strand are used to determine the identity of the base at a particular position in a piece of DNA? | Dideoxyribonucleotides |
| A patient is screened for the presence of the mutation by allele-specific oligomer hybridization,Signal was observed when the labeled oligomer of the mutant sequence was tested with the patient's sample. following the correct interpretation of results? | The patient has a homozygous mutation in BRCA1 |
| Which of the following is involved in connecting the centromere to the spindles during chromosome segregation in mitosis? | Kinetochore |
| Which of the following assays can be used to detect multiple mutations simultaneously? | Invader assay |
| Which end of the sequenced DNA is found at the bottom of a sequencing gel? | 5′ |
| An analysis that takes place in silico is happening in which of the following places? | Computer |
| An exchange of chromosomal material between chromosomes is called a(n): | Translocation |
| When two sequences are found to be the same, they have which of the following? | Identity |
| Which of the following types of chromatin are open and actively involved in gene expression (transcription)? | Euchromatin |
| A reference segment of DNA has the following sequence: GCTCACCATGG. The fourth nucleotide is changed to an A in a particular genetic disease. How would this mutation be denoted? | 4C>A |
| Fluorescence was detected in the well that included the normal probe, and no fluorescence was detected in the well containing the mutant probe. Which of the following is the correct interpretation of these results? | The patient does not have the factor V Leiden mutation |
| The patient's specimen had two bands, one that was the same size as the positive control band and the other that was a little smaller. Which of the following is the correct interpretation of these results? | The patient is heterozygous for the factor V Leiden mutation. |
| A nucleosome consists of DNA and which of the following combinations of histone proteins? | 2(H2a), 2(H2b), 2(H3), 2(H4) |
| Which of the following is the most widely used method of DNA sequencing in clinical laboratories today? | Sanger sequencing |
| Ten equivalents of a genome were cut into small pieces and sequenced. Computers were used to put the sequence of the pieces together to determine the sequence of the intact genome. The method described is which of the following? | Whole genome shotgun sequencing |
| the first band at the bottom of the gel was in the ddATP lane; the next band going up the gel was in the ddTTP lane, then the ddCTP lane, the ddGTP lane, the ddATP lane, the ddTTP lane, the ddCTP lane, the ddCTP lane, the ddATP lane, and the ddGTP lane. | 5′ATCGATCCAG3' |
| Which of the following mutations is more likely to result in a phenotypic change? | Frameshift mutation at the beginning of the coding sequence |
| Colcemid is used in the procedure of preparing a chromosome spread for karyotype analysis to do which of the following? | Inhibit microtubule formation |
| Which of the following is a genetic sequence database that is sponsored by the National Institutes of Health? | GenBank |
| When chromosomes are stained with Giemsa, the resulting bands are called: | G bands |
| . All the children of affected females were affected. Which of the following describes this inheritance pattern? | Mitochondrial-related |
| a family reveals that about 50% of the males in the family are affected by a mutation and about 50% of the females are carriers of the mutation that affects the males. | . X-linked recessive |
| When a typing method is repeated and the results are the same each time, the method has high: | reproducibility |
| The child: TPOX = 7/8; D5S818 = 11/12; D13S317 = 9/10; vWA = 11/12; D21S11 = 27/28. Alleged Father TPOX = 6/10; D5S818 = 9/13; D13S317 = 9/14; vWA = 14/16; D21S11 = 30/33. What can be said of Alleged Father 1? | He is excluded as the father. |
| Pulsed field gel electrophoresis has been performed on two isolates of Escherichia coli that have been isolated from the blood of newborns in the same neonatal unit. The banding pattern of the two isolates differed by two bands. interpretation of result? | The isolates are closely related. |
| In a pedigree, an affected female will be indicated by which of the following symbols? | Shaded circle |
| Which of the following organisms was one of the first targets for the development and implementation of molecular-based assays used for direct detection of the organism in a clinical specimen? | Chlamydia trachomatis |
| An individual who has two populations of cells that were derived from two different zygotes is called a: | chimera |
| All sex-linked disorders involve which of the following chromosomes? | X |
| Mitochondrial mutations primarily affect which of the following tissues? | Muscle |
| A PCR assay using primers specific for the autolysin (lytA) gene was performed on a sputum specimen from a 10-year-old girl. The specimen was positive, and all controls were acceptable. interpretation of these results? | Streptococcus pneumoniae is present but clinical significance questionable |
| A patient is tested to determine the number of CGG repeats in the FMR-1 gene by Southern blot. The patient is found to have a band that runs above the normal control band. Which of the following is the correct interpretation of these results? | The patient has full fragile X mutation. |
| Which of the following genes is the target in molecular-based assays that are used to quantitate the amount of HIV in a patient? | gag |
| PCR with RFLP analysis and reverse hybridization of the 5′ untranslated region of hepatitis C virus is the principle of which of the following commercial assays? | Inno-LiPA |
| If a locus is homozygous, then the locus has: | two alleles that are the same |
| Which of the following is used as a marker of gender? | Amelogenin |
| The mutation del(15)(q11q13) on the paternal chromosome results in a disease that is different from when the same mutation occurs on the maternal chromosome. This difference results from which of the following? | Imprinting |
| Two bands are seen in the lane loaded with the patient's sample, one at 153 bp and the other at 67 bp. Controls were acceptable. Which of the following is the correct interpretation of these results? | Homozygous mutation |
| Li-Fraumeni syndrome, in which affected patients have an increased predisposition to cancer, is caused by a mutation in which of the following genes? | p53 tumor suppressor gene |
| When two sources of DNA are compared by STR analysis in a crime scene, how many differences between alleles will determine that the two sources are different? | 1 |
| Two people have what percentage of DNA sequence that differs between them? | 1% |
| The ability of a typing method to distinguish between unrelated strains is which of the following criteria? | Discriminatory power |
| Which of the following polymorphisms can be used to compare DNA samples derived from males but not females? | Y-STR |
| Which of the following genetic diseases is a storage disease in which sulfatides accumulate inside the lysosomes? | Niemann-Pick |
| Two middle-age women who had been adopted into different families as infants discover circumstantially that they may have the same biological mother. Which of the following analyses would give the best information toward proving their maternal lineage? | Mitochondrial DNA |
| The detection of mitochondrial mutations is complicated by which of the following? | Presence of mutated and normal mitochondria in the same cell |
| Which of the following is a genotypic method for typing organisms? | Pulsed field gel electrophoresis |
| A patient presented complaining of slurred speech and difficulty swallowing. The patient's DNA was tested to determine the number of CAG repeats in the Huntingtin gene by PCR. The patient had 10-29 repeats. This result is interpreted as? | Normal |
| Which of the following is the molecular target for most epidemiological investigations of Mycobacterium tuberculosis? | IS6110 |
| DNA was isolated from a patient and cut with HaeIII. The fragments were separated by gel electrophoresis and transferred to a membrane. The fragments allowed to hybridize to a probe, and the band pattern was compared with another sample of DNA. | RFLP by Southern blotting |
| Which of the following polymorphisms are single nucleotide differences that are seen between two genomes? | Single nucleotide polymorphisms |
| A PCR assay that uses short primers that amplify random sequences found throughout the genome of the test organism is what variation of PCR? | Arbitrarily primed |
| Which of the following molecular-based assays is FDA-approved for the detection of human papillomavirus in endocervical specimens? | Hybrid capture |
| One of the rarest genome mutations, in which the affected infant has a cleft palate, abnormal heart, and developmental delays and usually does not survive beyond 6 months because of trisomy 13, is which of the following syndromes? | Patau's |
| Southern blot is used to detect which of the following polymorphisms? | Restriction fragment length polymorphisms |
| STR analysis is performed on bone marrow donor-recipient pairs prior to transplantation for which of the following reasons? | To find informative alleles for post-transplantation studies |
| Missense mutations in cell growth regulator proteins can result in which of the following diseases? | Neurofibromatosis |
| Which of the following molecular-based assay and detected organism combinations has been FDA-approved? | Hybridization protection assay for group A streptococci |
| HIV genotyping is performed for which of the following reasons? | Monitor development of antiretroviral drug resistance |
| Which of the following typing methods has high typing capacity, discriminatory power, reproducibility, and moderate ease of use? | PFGE |
| A PCR assay on DNA isolated from a nasopharyngeal swab was performed with the following results: amplification using primers to IS481 was positive and using primers to IS1001 was negative. All controls were acceptable. | Bordetella pertussis |
| A deceased family member is indicated in a pedigree by which of the following? | Slash through the shape |
| A woman has been raped by an unknown man. Which of the following laboratory procedures can be used to more accurately analyze residual DNA left by the man in an effort to identify him? | Y-STR |
| The lane containing the patient's sample has three bands at 240 bp, 140 bp, and 110 bp. Controls were acceptable. Which of the following is the correct interpretation of these results? | Heterozygous mutation |
| DNA isolated w/ restriction enzymes. fragments are ligated to adapters complementary to primers added to perform PCR. 2nd PCR, selective primers used to amplify the amplicons prod. in 1st PCR. products of the 2nd PCR separated by gel elec. and analyzed. | Amplified fragment length polymorphism |
| Which of the following genes is a target in molecular-based assays and confers resistance to vancomycin in the enterococci? | vanA |
| Which of the following syndromes is caused by deletions in mitochondrial genes as detected by Southern blot? | Pearson's |
| A point mutation in the adenosine deaminase gene results in which of the following diseases? | Severe combined immunodeficiency |
| In the interpretation of pulsed field gel electrophoresis patterns, what is the maximum number of bands that can differ between two organisms before those organisms are determined to be different? | 5 |