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Biochemistry > Genetics & Biotechnology > Flashcards

Genetics & Biotechnology Flashcards

1
Q

Hypothesizes that the physical and functional status of certain region of genomic chromatin is dependent on the patterns of specific histone posttranslational modification and or DNA methylation status.

A

Epigenetic Code

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2
Q

Post-translational modification of chromatin remodeling associated with alterations in transcriptional activity of genes.

A

Histone acetylation tends to destabilize chromatin structure

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3
Q

What is the base sequence of the RNA product template for transcription:
5’-GATCTAC-3’

A

3’-CAUGAUG-5’

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4
Q

Regulation of gene expression is significantly responsible for
_______, _______, and ________.

A
  1. Cellular differentiation
  2. Morphogenesis
  3. Versatility & Adaptability
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5
Q

Unusual repeated stretch of DNA localized at the tips of all eukaryotic chromosomes.

A

Telomere

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6
Q

Reflects the actions of the translation factor eIF-4E.

A

Interaction with eIF-4G in order to bind to the cap structure of the mRNA.

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7
Q

This enzyme elongates the DNA strand by adding new deoxyribonucleotides.

A

DNA Polymerase III

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8
Q

Hereditary nonpolyposis colon cancer is what type of error in repair mechanism?

A

Mismatch Repair

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9
Q

The DNA segment from which the primary transcript is copied or transcribed.

A

Coding strand

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10
Q

Site where RNA Polymerase II and multiple transcription factors bind to a DNA upstream from gene locus.

A

Promoter

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11
Q

DNA locus where regulatory proteins bind, increasing the expression of a gene on the same chromosome.

A

Enhancer

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12
Q

DNA locus where regulatory proteins bind, decreasing the expression of a gene on the same chromosome.

A

Silencer

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13
Q

Nucleic acid coding sequences retained in the mRNA as it matures.

A

Exons

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14
Q

Nucleic acid non-coding sequences removed from mRNA as it matures.

A

Introns

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15
Q

Indicative that the proofreading capacity is not being carried out by the defective DNA Polymerase II.

A

3’ to 5’ exonuclease activity

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16
Q

Z gene, seen in the lac operon, encodes _______?

A

B- galactosidase

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17
Q

Enhancer elements that are cis-acting DNA sequences that increase transcription of genes.

A
  1. Promoter
  2. Operator
  3. Cap site
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18
Q

Microbes that are triggers of Alzheimer’s.

A
  1. Herpes viruses
  2. Chlamydia pneumoniae
  3. Borrelia burgdorferi
  4. Porphyromonas gingivalis
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19
Q

Disorder in a child with moderate mental retardation, choreoathetoid movements, similar condition with older brother, spasticity of lower limbs with increased serum uric acid concentration.

A

Lesch-Nyhan Syndrome /
Deficient Hypoxanthine guanine phosphoribosyl

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20
Q

Compound elevated in a patient with Lesch-Nyhan Syndrome.

A

Uric Acid

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21
Q

Deficiency in this protein causes hemochromatosis which is a disorder that is the result of excess iron accumulation.

A

HLA Complex Iron Protein

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22
Q

Deficient enzyme in a patient with a defect in pyrimidine nucleotide biosynthesis who manifests with orotic aciduria.

A

UMP Synthase (OPRT/OMPD)

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23
Q

Expected effect of a mutation that results in the loss of the formation of the iron response element in the 5’-URT of the ferritin mRNA.

A

Increased translation of the mRNA when iron is low.

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24
Q

Cause for the increase in 2,3-BPG levels in a child with inherited erythrocyte pyruvate kinase deficiency

A

The lack of pyruvate kinase leads to an increase 1,3-BPG levels which is used to form 2,3-BPG by the Rapoport-Luebering Shunt Pathway.

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25
Q

Deficiency of this enzyme results in a child presenting with vomiting, severe diarrhea when fed cow’s milk showing signs of failure to thrive , weight loss, hepatomegaly, jaundice and elevated blood galactose, hypergalactosuria, metabolic acidosis with coagulation deficiency.

A

UDP-galactoseuridyltransferase Type 1 galactosemia

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26
Q

Complete absence of bilirubin UDPGT activity causing isolated indirect hyperbilirubinemia.

A

Crigler-Najjar Syndrome Type I

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27
Q

Partial absence of bilirubin UDPGT activity (around 10% remaining)
causing isolated indirect hyperbilirubinemia.

A

Crigler-Najjar Syndrome Type II

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28
Q

10-35% remaining activity of UDPGT activity causing isolated indirect hyperbilirubinemia.

A

Gilbert Syndrome

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29
Q

Isolated direct hyperbilirubinemia due to deficiency in major hepatic drug reuptake transporters OATP1B1 , OATP1B3

A

Rotor Syndrome

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30
Q

Isolated direct hyperbilirubinemia due to the presence of mutations in the gene for MRP2.

A

Dubin-Johnson Syndrome

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31
Q

Identify the enzyme deficient in Hurler Syndrome.

A

a-L-Iduronidase

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32
Q

Identify the mode of inheritance in Hunter Syndrome.

A

X-linked

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33
Q

All have mental retardation except for ________?

A

Morquio Syndrome

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34
Q

Crumpled tissue paper cells are seen in which disease entity?

A

Gaucher disease

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35
Q

What is the lipid accumulating in Tay-Sachs disease?

A

GM2 Ganglioside

36
Q

Lipid storage disease often manifested in childhood. All are autosomal recessive except?

A

Fabry Disease ( X-linked Recessive)

37
Q

What is thelipid accumulating in Tay-Sachs disease?

A

GM2 ganglioside

38
Q

Xeroderma pigmentosum is what type of error in repair mechanism ?

A

Nucleotide Excision Repair

39
Q

Disorder in an infant presenting with seizures, progressive lack of energy, feeding difficulties, hypotonia, abnormal jerking movements, and difficulty of breathing suggestive of a defect in the process of neurotransmission.

A

Maple Syrup Urine Disease

40
Q

What is the mode of inheritance in Menkes disease?

A

X-linked Recessive ; Copper is not mobilized from the intestine

41
Q

Disorder in a patient with history of acute hepatitis and progressive chronic liver disease with PE of parkinsonian tremors, diminished fascial muscle movement and choreoathetosis.

A

Wilsons Disease

42
Q

Defective protein in a patient manifesting symptoms of severe hemochromatosis such as slurred speech , memory impairment, ataxia, dementia, and bronze diabetes with no typical causes of iron overload.

A

Ceruloplasmin

43
Q

Pathogenesis of Wilson Disease.

A

Autosomal recessive: Copper is inappropriately stored in parenchyma of different organs

44
Q

Deficient protein in Hemophilia B patients.

A

Factor IX / Christmas Disease

45
Q

1 week old male infant with undetected classic phenylketonuria.

A
  1. A diet devoid of phenylalanine should be initiated immediately
  2. Therapy must begin within the first year of life
  3. Tyrosine is a nonessential amino acid for the patient
  4. Presence of phenyl-acetate in the urine with mousy odor
46
Q

Mechanism involved in hereditary spherocytosis that leads to anemia in a child.

A

Improper formation of the RBC membrane cytoskeleton

47
Q

Deficiency in this enzyme presents in a newborn developing lethargy, poor feeding, vomiting, rapid respirations with serum studies indicating increase ammonia, urine orotic acid concentration and a nondetectable citrulline concentration.

A
  1. Ornithine transcarbamylase
  2. OTC plays a role in the breakdown of nitrogen in the body
  3. X-linked genetic disorder
48
Q

Deficiency in this enzyme results in hemolytic anemia where in the erythrocytes are highly sensitive to oxidative stress likely due to the fact that they contain significantly less glutathione.

A
  1. G-glutamylcysteine synthetase
  2. Catalyzes the reaction to form glutathione
49
Q

This disease is a point mutations in mitochondrial DNA resulting in loss of retinal ganglion cell , leading to late onset acute optic neuropathy and bilateral central vision loss.

A

Leber Heriditary Optic Neuropathy

50
Q

Are troponins associated with Alzheimers disease?

A

No

51
Q

A theory in Alzheimers Disease is the lack or reduced synthesis of the neurotransmitter _____________?

A

Acetylcholine

52
Q

Which syndrome universally exhibits the earliest symptoms of AD (Alzheimers) by 40 years of age?

A

Down’s Syndrome

53
Q

What genetic deletion mutation of Alzheimers is reported as an Asian pedigree , and known for its familial occurence?

A

Osaka mutation

54
Q

Which protein is hypothesized to also cause AD by forming neurofibrillatory tangles inside the cell bodies?

A

Tau protein

55
Q

The oldest hypothesis on which most currently available drugs for Alzheimers are based on?

A

Cholinergic hypothesis

56
Q

Extracellular deposits in Alzheimers?

A

Amyloid hypothesis

57
Q

Support for this hypothesis is the location of gene for precursor protein in Alzheimers?

A

Amyloid hypothesis

58
Q

Neurodegenerative disease linked with Down Syndrome (Trisomy 21) ?

A

Amyloid hypothesis

59
Q

What are the changes and processes involved in oncogenesis?

A
  1. Genetic mutations:
    - Oncogene activation
    - Tumor suppression Gene Inactivation
  2. Epimutation:
    - Epigenetics
60
Q

What is the other name for programmed cell death?

A

Apoptosis

61
Q

What are the most important oncogenic viruses?

A
  1. HTLV-1
  2. HPV
  3. EBV
  4. Hepatitis B
  5. Hepatitis C
62
Q

What condition is associated with the Philadelphia chromosome?

A

Chronic Myelogenous Leukemia

63
Q

What is the mechanism of mutation in the Philadelphia chromosome?

A

Genetic translocation

64
Q

This process is inhibited by methotrexate (folate analogy) used in cancer , psoriasis , and rheumatoid arthritis

A

FH2 to FH4

65
Q

Mechanism of lipid malabsorption in cystic fibrosis

A

Patients with cystic fibrosis have difficulties with digestion since their thickened pancreatic secretions are less able to reach the small intestine, the primary site of lipid digestion.

66
Q

The heat stable DNA polymerase classically used in PCR.

A

Taq Polymerase

67
Q

Southern blot detects ____________?

A

DNA

68
Q

Western Blot detects _____________?

A

Proteins

69
Q

Which tool has thousands of nucleic acid sequences that are arranged in grids on glass or silicon?

A

Microarray

70
Q

Restriction fragment length polymorphism is best used to detect _______.

A

Inherited difference in the pattern of restriction.

71
Q

_________________ cleaves DNA at 4 to 6 base pairs of palindromic sequences allowing for insertion of a fragment into a plasmid.

A

Restriction endonucleases

72
Q

Which tool has thousands of nucleic acid sequences that are arranged in grids on glass or silicone?

A

Microarray

73
Q

This is a sequence of duplex DNA that is the same when the two strands are read in opposite directions.

A

Palindrome

74
Q

CRISPR stands for?

A

Clustered Regularly Interspaced Short Palindromic Repeats

75
Q

Characteristic of a recognition sequence of restriction endonuclease used to cut human DNa into pieces before inserting it into a plasmid.

A

Palindromic Sequence eg. AAGCTT for HindIII

76
Q

What disease has glucose 6 phosphate deficiency that manifest severe hypoglycemia because glucose generated from all pathways ( gluconeogenesis and glycogenolysis ) is trapped in the hepatocyte and cannot be released into the blood?

A

Von Gierke’s Disease

77
Q

What disease causes heart failure due to acid maltase deficiency?

A

Pompe’s Disease

78
Q

Disease that has defect in debranching enzymes which causes accumulation of branched polysaccharides?

A

Cori’s Disease

79
Q

Disease which has defect in branching enzyme which cause an accumulation of polysaccharide with few branch points.

A

Anderson’s Disease

80
Q

Disease caused by a defect in muscle phosphorylase which shows poor exercise tolerance, accumulation of muscle glycogen.

A

McArdle Syndrome

81
Q

Defect in liver phosphorylase which manifest accumulation of liver glycogen, mild hypoglycemia ( glycogenolysis is impaired , gluconeogenesis can replenish glucose)

A

Her’s Disease

82
Q

Conjugated hyperbilirubinemia , Increased Direct bilirubin , Dark liver.
What Syndrome?

A

Dubin Johnson Syndrome
(Dubin - Dark)

83
Q

Syndrome with increased direct serum bilirubin, absent urine urobilinogen, positive urine bilirubin? (3)

A

Obstructive Jaundice
Dubin Johnson Syndrome
Rotor Syndrome

84
Q

Syndrome with increased indirect serum bilirubin , positive urine urobilinogen, negative urine bilirubin? (2)

A

Crigler- Najjar
Gilbert Syndrome

85
Q

Lysosomal storage disease. (+) cherry red spot, exaggerated startle response ( hyperacusis ).
Diagnosis & enzyme deficiency & what substance accumulated in the px brain?

A

Taysach’s Disease
Hexosaminidase A
GM2 Ganglioside

86
Q

Px presents arthritis , connective tissue disorder , dark urine.
Identify the case and deficient enzyme?

A

Alkaptonuria
Homogentisate oxidase

87
Q

A rare genetic condition due to a deficiency of HDL. Clinical manifestations are mild hypertriglyceridemia, neurophathy and premature atherosclerosis.

A

Tangier’s Disease / Familial alpha Lipoprotein Deficiency

Biochemistry (19 decks)

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