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Chem TB Flashcards Unit 5 1) What hormones causes the hypothalamus to trigger the surge of Estrogen luteinizing hormone (LH) from the anterior pituitary just before ovulation? 2) What would the laboratory results be in a male patient exhibiting Decreased testosterone, decreased characteristic symptoms of hypogonadotropic hypogonadism? FSH 3) During the luteal phase, which hormone, when decreased in the Estradiol absence of conception, releases its inhibition on pituitary gland synthesis and release of FSH? 4) What hormones shuts off synthesis and release of LH from the Testosterone male pituitary gland? 5) Laboratory assessment of what hormones is used to evaluate Progesterone ovulation? 6) What statements concerning amenorrhea is (are) correct? D a. One cause of primary amenorrhea is Turner syndrome, in which there is no estrogen production by the ovaries. b. Hirsutism is a typical side effect of amenorrhea caused by androgen excess. c. Primary amenorrhea is defined as the absence of menstrual bleeding in women who have never menstruated. d. All of the above are correct. 7) A typical characteristic in a woman with polycystic ovary disease increased serum LH concentration. (PCOS) includes: 8) In nonpregnant women, progesterone is synthesized and secreted corpus luteum. by the: 9) Typical findings in a woman in menopause include: decreased estrogen and inhibin. 10) What statements regarding FSH/LH is incorrect? Progesterone produced by the corpus luteum causes LH levels to increase. 11) Dehydroepiandrosterone sulfate (DHEA-S): is an important screening test used to evaluate women with hirsutism and virilization. 12) Early activation of the hypothalamic-pituitary-gonadal axis in a GnRH-dependent precocious young child will lead to: puberty. 13) In measurement of testosterone in blood: morning specimens are preferred 14) The peptide hormone responsible for the discharge of the gonadotropins from the anterior pituitary gland, which causes Kallmann syndrome when deficient, is: 15) Inhibin: 16) A 14-year-old male comes to his physician with infantile genitalia and the lack of development of any secondary sex characteristics. The patient is short in stature. Upon discussion of family history, it was discovered that several male relatives had similar defects in testicular development. Based on this information, laboratory results would indicate: because of the diurnal release of testosterone. gonadotropin-releasing hormone. inhibits release of FSH from the male pituitary gland. decreased testosterone and elevated FSH/LH. 1 Chem TB Flashcards Unit 5 17) A 30-year-old female visits her physician with a complaint of excess facial and body hair, weight gain, and oligomenorrhea. She has read online that her symptoms indicate possible Cushing syndrome. Laboratory values indicate plasma cortisol levels within the reference intervals, elevated estrogen and LH, and decreased FSH. What other disorder might this patient have? 18) The benign growth of glandular breast tissue in men is referred to as: 19) Regarding the phases of the menstrual cycle, the suppression of luteinizing hormone synthesis by progesterone occurs during what phases? 20) What statements concerning maternal endocrine changes during the first 12 weeks (first trimester) of pregnancy is correct? 21) The placental peptide hormone that has exceptional homology with growth hormone and that has aldosteronestimulating effects is: 22) In a preterm infant, the lack of pulmonary surfactant in immature lungs will produce what symptoms? 23) The presence of bilirubin in amniotic fluid is an indicator of: 24) When the gradual replacement of hemoglobin F by hemoglobin A does not occur normally, what is the result? 25) Fetal lung maturity: 26) The primary function of amniotic fluid is to: 27) The trophoblast cells that surround the developing blastocyst: 28) The cells that form surfactant in fetal lungs are the: 29) A pregnant woman, who has been previously diagnosed with preeclampsia, develops edema, headaches, and nausea over several weeks. She complains about a band of pain around the upper part of her abdomen. Her eyes and skin are yellow. Her obstetrician orders a full blood workup, including coagulation studies, CBC, liver enzyme profile, and electrolyte panel. Her serum appears hemolyzed. If this woman was diagnosed with preeclampsia originally, what might these laboratory results reveal? 30) In the second trimester of pregnancy, maternal serum inhibin A concentration is: 31) The maternal screening tests that are considered to be part of the “quadruple test” for estimating Down syndrome risk include: Polycystic ovarian syndrome (PCOS) gynecomastia. Luteal phase TSH remains unchanged chorionic gonadotropin. Respiratory distress fetal erythroblastosis. Increased oxygen affinity to hemoglobin F can be accelerated by administration of corticosteroids before birth. provide protection, constant temperature, and moisture for the fetus. invade the endometrium and form the placenta. type II pneumocytes. Elevated liver enzymes, abnormal coagulation results, low platelet count, elevated sodium high in the presence of Down syndrome and low in trisomy 18. alpha-fetoprotein, unconjugated estriol, chorionic gonadotropin, and inhibin A. 2 Chem TB Flashcards Unit 5 32) A pregnant woman was tested for fetal fibronectin (fFN) using vaginal secretions as the specimen. The fFN result indicated a concentration of 55 ng/mL. What information does this analyte’s value provide? 33) Early in gestation, amniotic fluid has a composition similar to: 34) A pregnant woman in her second trimester visits her obstetrician with elevated blood pressure. A urine sample reveals normal glucose, elevated protein, and a small number of red and white blood cells. The woman is recommended for bed rest for the remaining term of her pregnancy. This condition is known as: 35) During embryonic development of the brain and spinal cord, failure of the neural tube to close with resultant fetal protein leaking into the amniotic fluid is referred to as: 36) Concerning alpha-fetoprotein (AFP), what statements is correct? 37) A hormone that is monitored to assess conditions associated with intrauterine (vs. ectopic) fetal growth is: 38) In the second trimester, maternal age along with a screening serum analysis of alpha-fetoprotein, inhibin A, unconjugated estriol, chorionic gonadotropin, and what are assessed as the “integrated test” testing panel for Down syndrome risk estimate? 39) Greenish amniotic fluid indicates the presence of: 40) Newborn screening is considered a public health activity that aims to identify and treat possible deadly conditions early in an infant’s life. What characteristics must be met before a disease can be part of a screening program? 41) What is the basic setup of a tandem mass spectrometry analyzer? It indicates that the risk of preterm delivery is two to four times greater than normal. extracellular fluid. preeclampsia. anencephaly. An appropriate time to measure AFP in maternal serum is at 16 weeks gestation when it is approximately 3.5 µg/dL. chorionic gonadotropin (CG). Nuchal translucency (NT) and pregnancy-associated plasma protein A (PAPP-A) fetal meconium. Genetic counseling and treatment for the disease must be available. Two beam type mass spectrometers are arranged sequentially in tandem mass spectrometry, with a “collision cell” placed between the two instruments. 42) Hyperphenylalaninemia due to classic phenylketonuria (PKU) A is accompanied by all the following except: a. elevation of blood tyrosine. b. elevation in urinary phenylketones. c. elevation in blood phenylalanine correctable by dietary phenylalanine restriction. d. mental retardation if left untreated. 3 Chem TB Flashcards Unit 5 43) An autosomal recessive disorder: 44) The disorder that is identified by increased serum carnitine and urine glutaric acid on newborn screening is: 45) The disorder that is identified by increased serum carnitine and urine glutaric acid on newborn screening is characterized by dysfunctional metabolism of: 46) A newborn screening test using a dried blood spot is positive for congenital adrenal hyperplasia (CAH). What laboratory testing would be done next? 47) What is the advantage of tandem mass spectrometry (MS/MS) multiplex analysis? 48) Of the following, what is the inborn error of metabolism for maple syrup urine disease? 49) Of the following, what is the inborn error of metabolism for medium chain acyl-CoA dehydrogenase deficiency? 50) Of the following, what is the inborn error of metabolism for glutaric acidemia type 1? 51) Of the following, what is the inborn error of metabolism for glycogen storage disease? 52) Of the following, what is the inborn error of metabolism for alkptonuria? 53) Of the following, what is the inborn error of metabolism for propionic acidemia? 54) A newborn infant is observed to have symptoms of poor feeding, vomiting, lethargy, and irritability. Screening tests reveal elevated ornithine and ammonia in the infant’s blood. What type of disorder do these symptoms indicate? 55) Dietary restriction of foods containing the branched-chain a. amino acids is one of the treatments required for individuals with: 56) You have been asked to direct a pharmacogenetics testing a. laboratory in a hospital with many transplant patients who receive mercaptopurine derivatives to control transplant rejection. What enzyme phenotyping or genotyping services would be the highest priority to establish initially? 57) You are appointed director of the county hospital cardiac a. laboratory and have been asked to identify individuals that might not respond well to platelet-inhibiting, clotdestroying drugs. What polymorphic genes would you be most interested in having genotyped to discover these individuals? is defined as one in which there is a mutation in both alleles encoding for a specific enzyme/transporter. glutaric acidemia type 1. tryptophan, hydroxylysine, and lysine. A second-tier test for CAH, such as an MS/MS steroid profile Multiple metabolites are detected simultaneously in one blood sample to allow for detection of several disorders at once. Aminoacidopathy Disorder of fatty acid oxidation Organic acidemia Disorder of carbohydrate metabolism Aminoacidopathy Organic acidemia Urea cycle disorder Maple syrup urine disease Thiopurine methyltransferase (TPMT) genotyping CYP2C19 4 Chem TB Flashcards Unit 5 58) Bilirubin is an important endogenous substrate of what a. enzymes? 59) Regarding pharmacogenetics, a phase 1 enzyme metabolizes drugs by: 60) A combination of alleles that are located closely together on a. the same chromosome and are inherited together is the definition of: 61) Tamoxifen is a drug that is used to prevent or treat some a. forms of breast cancer. Before it can have a physiological effect, tamoxifen must be metabolized to an active metabolite called endoxifen. Tamoxifen is therefore considered to be a: 62) A drug substrate for the metabolizing enzyme UGT1A1 is: 63) A drug substrate for the metabolizing enzyme CYP2D6 is UGT1A1 Oxidizing a drug substrate. Haplotype Prodrug Irinotecan. Tamoxifen. 64) The metabolizing enzyme that catalyzes the transfer of an a. NAT1. acetyl moiety from acetyl-CoA to homocyclic and heterocyclic arylamines and hydrazines in, for example, substrates related to cigarette smoke is: 65) Which two of the following metabolizing enzymes are a. VKORC1 and CYP2C9 involved in metabolism of warfarin? 66) The enzyme that metabolizes 5-fluorouracil is: a. DPD. 67) A limitation of using genotyping in pharmacogenetic testing a. Interindividual variation in gene would be: expression. 68) A pharmacogenetic drug-gene target would be most successful when clinically implemented when: 69) What enzymes is considered a phase 1 enzyme? Is associated with a clinically significant effect on the relationship between drug dose and plasma concentration. a. CYP2C6 70) The HLA gene and its variants that have been associated B most closely with drug hypersensitivity and can be assessed in a laboratory is HLA-: 71) The most basic level of chromatin organization that is a. Nucleosome. present as repeated units along the full length of each chromosome is represented by the: 72) The main goal of the ENCODE Project is to: a. Identify all functional elements within the human genome. 73) DNA replication is referred to as semiconservative because:a. Newly duplicated DNA molecules are composed of one parent and one daughter strand. 5 Chem TB Flashcards Unit 5 74) The protective nucleotide sequences that are located on the end of a chromosome and make up part of constitutive heterochromatin is referred to as the: 75) If 30% of the nucleotides in a genome are A (adenine), what a. would be the percentage of nucleotides that are G (guanine)? 76) DNA and RNA differ, in part, because of their sugar a. molecules. What is missing on the DNA sugar that is present in the RNA sugar? 77) DNA methylation as a means of regulating gene expressiona. is restricted to what bases? 78) In regard to replication, the “parent” strand of deoxyribonucleic acid (DNA): Telomere. 20% Hydroxyl group Cytosine bases in the dinucleotide sequence CG a. Has a sequence that is complimentary (opposite) to the daughter strand being replicated. 79) In regard to the components of the genetic code, a “codon” Sequence of three nucleotides. is a: 80) The conversion of mRNA nucleotide sequences and the a. Translation. tRNA-attached amino acids into a polypeptide is referred to as: 81) In regard to DNA, an exon is defined as a: a. Segment of DNA that is represented in a mature strand of mRNA and is translated into a protein. 82) During replication, the addition of bases occurs a. In the 5' to 3' direction. 83) What sequences contains a signal that indicates the end of a protein? a. 5' GUG ACU AGG UGG CGA CCC UAU 3' b. 5' AAC CGA CUC AUC CAG GUA UAA 3' c. 5' ACC CGA CCA UCC AGG CUG AGG 3' d. 5' AGC CGA CUC AUC AGG UUU GAU 3' 84) Transfer RNA (tRNA): 85) In regard to transcription, an example of a core promoter sequence on a DNA strand is the TATA box. Core promoters are: B contains the anticodon region that binds to mRNA codon in the ribosome. sequences of nucleotides that are recognized by RNA polymerase II and that control the initiation of transcription. 6 Chem TB Flashcards Unit 5 86) A woman inherits a specific allele from her mother and develops a specific disease syndrome. Another woman receives the same specific allele from her father and develops a much milder form of the disease. This is likely an example of: 87) What statements concerning the difference between DNA and RNA is correct? 88) The expressed function or biological effect of a gene product is termed a: 89) What statements concerning mitochondrial DNA (mtDNA) is incorrect? 90) A noncoding RNA is one that: 91) Regarding transcription, the proteins that help to position eukaryotic RNA polymerase II at the core promoter region are referred to as: 92) The proteins that wrap DNA tightly to condense it into nucleosomes are called: 93) In regard to DNA structure, a sugar/phosphate group with its attached base is referred to as a(n): 94) The conversion of an mRNA sequence into a string of covalently bonded amino acids is a process referred to as: 95) In regard to excision of introns and splicing of exons in a primary RNA transcript, the spliceosome is made up of: 96) You have prepared a restriction enzyme digest of DNA from an individual who might have a genetic disorder. On the gel, you note that the digest from this individual produces one fragment, whereas the digest from a normal healthy individual produces two fragments. All controls worked correctly and you used the same reagents for all testing. What is your interpretation? 97) The purpose of restriction fragment polymorphism analysis (RFLP) is to: 98) You want to determine the accuracy of hybridization of a probe to a Southern blot to eliminate binding of the probe to incorrect target sequences. What would be an appropriate positive control to assess assay sensitivity? 99) What is the key enzyme used in a polymerase chain reaction (PCR)? 100) In the dideoxy-termination sequencing method, what causes the termination of the newly synthesized DNA strand? mitochondrial mutation. RNA exists typically as a singlestranded polymer that is much shorter than DNA. phenotype. The mutation rate of mtDNA is 20 times lower than that of nuclear DNA. has a biological function but does not code for a protein. general transcription factors. histones. nucleotide. translation. small nuclear ribonucleoprotein particles. The diseased individual’s DNA is missing a restriction site. identify the presence of mutations or sequence changes. identify the presence of mutations or sequence changes. Polymerase Addition of a dideoxynucleotide 7 Chem TB Flashcards Unit 5 101) In real-time PCR: 102) False positive results in molecular testing are most likely caused by what 103) What procedures can be used to avoid contamination with PCR reaction product (amplicon) when performing a PCR procedure? a. Use of positive displacement pipettes b. Use of closed-tube methods c. Physical separation of preamplification and postamplification rooms d. All of the above 104) What statements regarding DNA gel electrophoresis is true? 105) The annealing step in a PCR involves: 106) When performing a PCR procedure, what is the best control to run to assess the presence of amplicon? 107) An example of a signal amplification technique (as opposed to a target or probe amplification technique) would be: 108) How does a dideoxynucleotide (ddNTP) that is used in DNA sequencing methods differ from a typical deoxynucleotide (dNTP) present in normal DNA? 109) In a pyrosequencing reaction, the incorporation of a nucleotide releases _____. Eventually, visible light is produced by an enzyme reaction. 110) What statements regarding single-stranded conformational polymorphism (SSCP) analysis is incorrect? one can observe amplified nucleic acid fragments as they are synthesized. Contamination with amplicon D Polyacrylamide gel can separate smaller fragments of DNA with high resolution and is best for single-stranded nucleic acid separation. binding of the primers to the single-stranded DNA. Blank control branched-chain amplification. ddNTPs lack a hydroxyl group at the 3' carbon pyrophosphate In SSCP, separation of a PCR product is performed with a gel that includes a concentration gradient of denaturants. 111) If RNA is to be used in a PCR amplification procedure, A reverse transcription procedure what is the initial step that must be performed? must be performed to form cDNA. 112) The increase in the quantifiable signal observed early on initial amount of target DNA. in real-time PCR is dependent upon the: 113) What type of assay is hybrid capture? Solution-phase hybridization 114) When combined with real-time PCR, melting curve examine a single nucleotide analysis is done to: variant genotype in a short amount of time. 115) Gene expression microarrays quantify: relative amounts of different messenger RNAs in samples. 8 Chem TB Flashcards Unit 5 116) Regarding detection methods, the most common and preferred sequence-specific label for probes used in nucleic acid analysis is a(n) _____ label. 117) What is the name given to the probe types used in realtime PCR that change fluorescence through fluorescence resonance energy transfer (FRET) upon duplex formation? 118) In a PCR, a control nucleic acid sequence that is different from the target sequence is added to each sample to: 119) What is the purpose of the labeled oligonucleotide probe used in hybridization assays? 120) An enzyme that hydrolyzes one or more phosphodiester bonds in nucleic acid polymers is called a: 121) A single nucleotide variant (SNV) that produces a misplaced termination codon in a polypeptide chain is called a: 122) A single nucleotide variant that produces a misplaced termination codon in a polypeptide chain results in: 123) Polymorphic DNA sequences that are short tandem repeats 1 to 13 base pairs in length are referred to as: 124) On average, how much of a gene sequence is removed as introns, leaving the exons to be spliced together and translated into protein? 125) What is a similarity between bacterial and human genomes? 126) Polymorphic repeated DNA sequences that are sometimes referred to as minisatellite sequences and are between 14 and 500 base pairs in length are called: 127) What statements regarding the human genome below is correct? 128) If you were interested in studying plasmid structure, what cell types would be appropriate for you to examine? 129) In the following sequences, the normal amino acid sequence is given first followed by a sequence that is produced by a sequence alteration. Identify the type of sequence alteration that most likely causes the altered amino acid sequence. Normal Sequence: Phe-Asn-Pro-Thr-Arg Mutated Sequence: Phe-Asn-Pro What type of sequence alteration most likely caused the mutation? fluorescent Hybridization control for the presence of inhibitors in the sample that might inhibit polymerase activity. To detect the presence of a specific nucleotide sequence nuclease. nonsense variant. premature polypeptide chain termination. microsatellites. 95% Presence of double-stranded DNA a variable number of tandem repeats. Mobile genetic elements (transposons) comprise almost half of the human genome. Bacterial cells Nonsense 9 Chem TB Flashcards Unit 5 130) In the following sequences, the normal amino acid sequence is given first followed by the sequence that is produced by a sequence alteration. Identify the type of sequence alteration that most likely causes the altered amino acid sequence. Normal Sequence: Phe-Asn-Pro-Thr-Arg Mutated Sequence: Phe-His-Pro-Thr-Arg What type of sequence alteration most likely caused the mutation? 131) A virus does not need as much nucleic acid for the production of protein as bacteria do because: 132) Approximately what percentage of genomic DNA D is required to maintain the structure of chromosomes as centromeres and telomeres? 133) The major difference between single nucleotide variants (SNVs) and copy number variants (CNVs) is that: 134) An example of epigenetic variation that affects gene expression would be: 135) Copy number variants comprise approximately what percent of the human genome? 136) Match the specific hormone with its clinical usefulness. Estriol (E3) Prolactin Estradiol (E2) LH 137) Match the hormone with the disease or condition produced by that hormone’s hypersecretion or hyposecretion. Prolactin Testosterone Progesterone LH 138) True or False: To evaluate ovulation, basal body temperature can be recorded. If ovulation has occurred, a rapid decrease in body temperature is noted throughout the luteal phase and is caused by progesterone 139) True or False: An example of a confirmatory laboratory test used to verify a borderline abnormal newborn screening test result in an asymptomatic individual would be gas chromatography combined with mass spectrometry, particularly for organic acid analysis. Missense viruses use the DNA of the cells that they infect to produce protein. 2% BCNVs occur in stretches of DNA from 100 to millions of bases in size, whereas SNVs involve single base changes. histone modifications. 10% Screens for fetal Down syndrome Assesses amenorrhea Assesses ovarian function Occurrence of ovulation Galactorrhea Precocious puberty Can’t maintain endometrium Polycystic ovary syndrome False True 10