Genetics & Biotechnology Flashcards by Hanna Mercado

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.

Epigenetic Code

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

Histone acetylation tends to destabilize chromatin structure

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

3’-CAUGAUG-5’

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

Cellular differentiation
Morphogenesis
Versatility & Adaptability

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

Telomere

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

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

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This enzyme elongates the DNA strand by adding new deoxyribonucleotides.

DNA Polymerase III

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

Mismatch Repair

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

Coding strand

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

Promoter

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

Enhancer

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

Silencer

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

Exons

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

Introns

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

3’ to 5’ exonuclease activity

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

B- galactosidase

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

Promoter
Operator
Cap site

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Microbes that are triggers of Alzheimer’s. (4)

Herpes viruses
Chlamydia pneumoniae
Borrelia burgdorferi
Porphyromonas gingivalis

Bobo Po Her Chlassmates

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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.

Lesch-Nyhan Syndrome /
Deficient Hypoxanthine guanine phosphoribosyl

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Compound elevated in a patient with Lesch-Nyhan Syndrome.

Uric Acid

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

HLA Complex Iron Protein

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

UMP Synthase (OPRT/OMPD)

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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.

Increased translation of the mRNA when iron is low.

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

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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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.

UDP-galactoseuridyltransferase Type 1 galactosemia

Complete absence of bilirubin UDPGT activity causing isolated indirect hyperbilirubinemia.

Crigler-Najjar Syndrome Type I

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

Crigler-Najjar Syndrome Type II

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

Gilbert Syndrome

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

Rotor Syndrome

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

Dubin-Johnson Syndrome

Identify the enzyme deficient in Hurler Syndrome.

a-L-Iduronidase

Identify the mode of inheritance in Hunter Syndrome.

X-linked

All have mental retardation except for ________?

Morquio Syndrome

Crumpled tissue paper cells are seen in which disease entity?

Gaucher disease

What is the lipid accumulating in Tay-Sachs disease?

GM2 Ganglioside

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

Fabry Disease ( X-linked Recessive)

What is thelipid accumulating in Tay-Sachs disease?

GM2 ganglioside

Xeroderma pigmentosum is what type of error in repair mechanism ?

Nucleotide Excision Repair

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.

Maple Syrup Urine Disease

What is the mode of inheritance in Menkes disease?

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

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.

Wilsons Disease

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.

Ceruloplasmin

Pathogenesis of Wilson Disease.

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

Deficient protein in Hemophilia B patients.

Factor IX / Christmas Disease

1 week old male infant with undetected classic phenylketonuria.

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

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

Improper formation of the RBC membrane cytoskeleton

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.

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

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.

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

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.

Leber Heriditary Optic Neuropathy

Are troponins associated with Alzheimers disease?

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

Acetylcholine

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

Down’s Syndrome

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

Osaka mutation

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

Tau protein

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

Cholinergic hypothesis

Extracellular deposits in Alzheimers?

Amyloid hypothesis

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

Amyloid hypothesis

Neurodegenerative disease linked with Down Syndrome (Trisomy 21) ?

Amyloid hypothesis

What are the changes and processes involved in oncogenesis?

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

What is the other name for programmed cell death?

Apoptosis

What are the most important oncogenic viruses?

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

What condition is associated with the Philadelphia chromosome?

Chronic Myelogenous Leukemia

What is the mechanism of mutation in the Philadelphia chromosome?

Genetic translocation

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

FH2 to FH4

Mechanism of lipid malabsorption in cystic fibrosis

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.

The heat stable DNA polymerase classically used in PCR.

Taq Polymerase

Southern blot detects ____________?

DNA

Western Blot detects _____________?

Proteins

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

Microarray

Restriction fragment length polymorphism is best used to detect _______.

Inherited difference in the pattern of restriction.

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

Restriction endonucleases

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

Microarray

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

Palindrome

CRISPR stands for?

Clustered Regularly Interspaced Short Palindromic Repeats

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

Palindromic Sequence eg. AAGCTT for HindIII

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?

Von Gierke’s Disease

What disease causes heart failure due to acid maltase deficiency?

Pompe’s Disease

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

Cori’s Disease

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

Anderson’s Disease

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

McArdle Syndrome

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

Her’s Disease

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

Dubin Johnson Syndrome (Dubin - Dark)

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

Obstructive Jaundice Dubin Johnson Syndrome Rotor Syndrome

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

Crigler- Najjar Gilbert Syndrome

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

Taysach’s Disease Hexosaminidase A GM2 Ganglioside

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

Alkaptonuria Homogentisate oxidase

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

Tangier’s Disease / Familial alpha Lipoprotein Deficiency

Deficient enzyme in McArdle disease?

Glycogen phosphorylase

Deficient enzyme in Pompe disease?

Lysosomal a(1-4)-glucosidase

Deficient enzyme in Cori disease?

4:4 transferase

Deficient enzyme in Gierke disease ?

Glucose -6- phosphatase

Which HLA subtype is associated with Type 1 DM?

HLA DR3 & DR4 Dre ug Dra DM Type I

Which HLA B27 subtype is associated with what conditions? (4)

Psoriatic arthritis Ankylosing spondylitis IBD - associated arthritis Reactive arthritis

Which HLA subtype is associated with Celiac Disease?

HLADQ2 HLADQ8 Bawal ug DairyQueen ang naay Celiac Disease Dairy Queen = 2 Abbreviation and 10 total letters. 2-10= 8

Which HLA subtype is associated with Abacavir hypersensitivity?

HLA B57

Which of the following is associated with CAG trinucleotide repeats?

Huntington Disease Huntington CAG nawng

Which of the following is associated with CTG trinucleotide repeats?

MyoTonic dystrophy cTg

Which of the following is associated with CGG trinucleotide repeats?

Fragile X syndrome CGG balik sa imong fragile na X

Which of the following is associated with GAA trinucleotide repeats?

Friedreich ataxia Friedreich akong lanGAA

Mutation in type V collagen associated with what syndrome?

EDS Ehlers-Danlos : Classical Type E - 5th letter in the **classical** alphabet EDS - **Vascular** Type is Type III Procollagen mutation

Diseases that presents with cherry red spots on the macula?(3)

1. Tay-Sachs Disease - Hexosaminidase A deficiency 2. Niemann-Pick Disease - deficiency of sphingomyelinase 3. Central Retinal artery occlusion Taysa! Pick Nieman at Central , a man with cherry on top cherry on top #BINI

Genetics & Biotechnology Flashcards

(101 cards)