Genetics Block 4

  1. Fetal retinoid syndrome is caused by?
    isotretinoin( retinoic acid )
  2. *Thalidomide syndrome causes what?
    malformed limbs
  3. Thalidomide was used as what?
  4. Accutane is also known as?
  5. Development is controlled by?
  6. What is responsible for the decrease in plasticity of cells?
    Epigenetic programming
  7. Isotretinoin is also known as?
    Retinoic acid
  8. Ability to compensate for loss or injury of cells is called?
    Regulative development
  9. Ability to compensate for loss or injury of cells is seen when?
    during early embryogenesis
  10. Inability to compensate for loss or injury of cells is seen in what type of development?
    Mosaic development
  11. Natural reprogramming is seen in what organism?
  12. What are the 3 axis?
    • cranial-caudal
    • dorsal ventral
    • left right
  13. What type of genes in development have homeodomains?
    Hox Genes
  14. What genes regulate mophogenesis?
    Hox Genes
  15. 3' hox genes code for what part of the embryo?
    cranial end
  16. 5' hox genes code for what part of the embryo?
    caudal end
  17. Mutation in HoxD13 causes what?
  18. What is the human homolog of hedgehog?
    sonic hedgehog
  19. What morphogen induces formation of floor plate?
    sonic hedge hog
  20. What secretes hedgehog?
  21. What is responsible for different expressivity in defects of hedgehog signaling?
    concentration of the morphogen
  22. What is lissencephaly?
    Smooth Brain
  23. Miller-Dicker Syndrome is caused by a mutation of what gene?
    LIS gene
  24. Defective cell migration results in what 2 syndromes?
    • Hirshsprung
    • Waardenburg syndrome
  25. Loss of PAX3 leads to what syndrome?
    Waardenburg syndrome
  26. What is heterochromatic Irides?
    2 different colored eyes
  27. DiGeorge syndrome is caused by a deletion of what gene?
    TBX1 gene
  28. Tbx4 gene codes for what?
  29. Tbx5 codes for what?
  30. What are the defects caused by a 22q11 deletion?
    • cleft palate
    • abnormal facies
    • thymic aplasia
    • cardiac defects
    • hypocalcemia--due to parathyroid aplasia
  31. What is the HLA haplotype associated with DM1?
    HLA-DR3 and 4
  32. What is the HLA haplotype associated with Ankylosing Spondylosis?
    HLA-DR 27
  33. What is AGE?
    Advanved glycosylated end product
  34. Insulin has what type of a disulfide bond?
    single intrachain
  35. Regulated development?
    • taking a cell out of an embryo and testing for a condition
    • cells have high plasticity so the fetus is not affected
  36. When is amniocentesis performed?
    at 16th week
  37. How is gestation period determined?
    from the last menstrual cycle
  38. What protein is used to screen for neural tube defects?
    alpha- fetoprotein
  39. 3 types of ?
    • malformation
    • dysformation
    • distruction
  40. In what conditions is alpha-fetoprotein increased?
    neural tube defects
  41. What is responsible for nuchal translusency?
    • fluid accumulation--edema
    • symptomatic of Down Syndrome
  42. What are the 4 markers that are sampled in second trimester?
    • unconjugated estriol
    • AFP
    • Free Beta Hcg
    • Inhibin A
  43. In what disorder is Inhibin A elevated?
    Trisomy 21
  44. What are the 3 markers sampled in first trimester?
    • Nuchal Translucency
    • PAPP-A
    • Free beta hCG
  45. What is used to determine fetal age?
  46. How can Nuchal Translucency be detected?
    thru ultrasonography
  47. What TF is used for proximal limb?
  48. What TF is used for hindlimb?
  49. What finds are seen in ch 22 q11 deletion?
    • cleft palate
    • abnormal facies
    • thymic aplasia
    • cardiac defects
    • Hypocalcemia
  50. What technique is used to look at embryo's genome during invitro fertilization
    • PCR
    • FISH
  51. In order to be called true mosaicism what must be present?
    multiple colonies from several primary cultures
  52. How would pseudomosaicism present?
    a single unusual Cell
  53. Methylmalonic aciduria is seen in what catabolic pathway?
    Odd chain FA degradation
  54. What are the advantages of placental cord blood transplantation over bone marrow transplantation?
    • immunocompatibility
    • low risk of graft vs host disease
    • widely available..from relatives
  55. What is the option of treatment of cystic fibrosis and alpha one antitrypsin deficiency?
    liver transplantation
  56. Gene therapy is used in what types of cell lines?
    • somatic cells
    • NOT GERM Cells
  57. What is the difference between cDNA and Genomic DNA?
    • cDNA only mRNA only exons
    • Genomic DNA---mRNA---i.e...exons plus introns
  58. What are the two ways of introducing genes?
    • in vitro
    • in vivo
  59. What removes a gene from a persons DNA?
    restriction endonuclease
  60. What condtitions could be caused by transposons?
    • DM
    • Neurofibromatosis
    • Duchene muscular dystrophy
  61. In gene therapy what is the gene targeted in?
    • Hemophilia A--factor 8
    • Hemophilia B--Factor 9
    • Cystic Fibrosis--CFTR
    • Familial hypercholesterolemia---LDL receptor
    • Alpha one antitrypsin--alpha one antitrypsin gene
    • Duchenne Muscular Dystrophy--dystrophin gene
  62. What drug should be prohibited in Porphyria?
  63. Penicilamine is used to treat what conditon?
    Wilsons disease
  64. What is accumulated in Refsum's disease?
    Phytanic acid
  65. Refsum's disease is caused by a deficiency of what enzyme?
    alpha hydroxylation
  66. HbF is advantageous in what condition?
    Sickle cell
  67. Antagonists of tumor suppressors are ?
    tumore suppressors
  68. What are 6 tumor suppressor genes?
    • Gate keepers
    • RB1
    • p53
    • Caretakers
    • BRCA1, BRCA2
    • MLH1, MSH2
  69. Tumor suppressors usually require how many mutations to become oncogenes?
  70. What is lost in tumor suppressor genes?
    heterozygosity--familial case
  71. Pre-replicative damage is accomplished by what protein?
  72. What does p53 do?
    allows for transcription of p21
  73. What tumor suppressor is located on ch 13?
  74. A proapoptotic gene?
  75. Anti-apoptotic gene?
  76. What occurs in a person that inherits a defective retinoblastoma in order for the person to get retinoblastoma?
    the person gets a mutation on the other gene
  77. What inactivates E2F?
  78. Normally Rb is bound to what?
  79. Li-Fraumeni is inherited in what fashion?
    Autosomal Dominant
  80. p53 is located on what chromosome?
  81. What is the mode of action of p53?
    • p53 binds to damaged DNA
    • induces p21 transcription
    • p21 inhibits activity of cdk2
  82. What are the the functions of p53?
    • stops G1-S progression
    • induces apoptosis
  83. NF1 is found on what chromosome?
  84. In order for Ras to be active it needs to bind what?
  85. 2 genes involved in breast cancer?
    • BRCA1
    • BRCA2
  86. What are the genes located on chromosome 17?
    • p53
    • NF-1
    • BRCA-1
  87. DSB is done in what 3 ways?
    • end-join repair
    • homologous recombination
  88. Familial Adenomatous Polyposis is inherited in what fashion?
    autosomal dominant
  89. HNPCC are caused by what genes?
    • MLH1
    • MSH2
  90. MLH1, MSH2 are involved in what type of repair?
    mismatch repair
  91. Hypermethylating does what to genes?
    shuts down transcription
  92. What is the hall mark of reduced penetrance?
    skipped generation
  93. p53 check point in G1/S checks for what?
    pre-replicative DNA damage
  94. What are the 2 functions of p53?
    • -controls G1/S
    • - apoptosis
  95. Lish nodules and cafe au leit spots are characteristic of what condition?
  96. What genes of importance are located on ch 17?
    p53, NF1, BRCA1
  97. What genes of importance are located on chromosome 13?
    • RB1
    • BRCA2
  98. BRCA involved in what kind of repair mechanism?
    Double strand break
  99. What keeps beta catenin under control?
  100. Aflotoxin B1 is produced by what?
    Aspergillus Flavus Oryzae
  101. Treatment for Urea cycle disorder?
    Na benzoate
  102. When is chorionic villi sampling performed?
    week 11
  103. Epstein-Barr virus causes what cancer in african children?
    Burkitt's lymphoma
  104. Pregnancy at what maternal age is the risk of fetal abnormalitites equal to the risk posed by performing amniocentesis?
  105. Alpha feto protein are obtained by what two routes?
    • fetus--amniocentesis
    • mother-serum
  106. When is amniocentesis and chorionic villi sampling performed respectively?
    • amniocentesis-->16th week
    • chorionic villus sampling--->10th week
  107. What is cordiocentesis?
    sampling of umbilical cord blood
  108. When are chorionic villus sampling, amniocentesis, cordiocentesis performed?
    • chorionic villus samling--10th week
    • amniocentesis--16th week
    • cordiocentesis--20 th week
  109. What is used to test for open NTD?
    maternal serum Alpha feto-protein
  110. What marker is increased in all aneuploidies?
    nuchal translucency
  111. In what trisomy is hCG increased?
    down syndrome
  112. Pregnancy-associated plasma protein (PAPP) is depressed in which aneuplodies?
    all of them
  113. hcG is depressed in all aneuploidies except what?
    Down syndrome
  114. Inhibin A is depressed in all trisomies except what?
    Trisomy 21
  115. Alpha feto protein is elevated in what condition?
  116. What are two amniotic markers elevated for Down Syndrome?
    • human chorionic gonadotropin
    • Inhibin A
  117. Which procedure allows for biochemical analysis for metabolic diseases?
    chorionic villi sampling
  118. Malformations are caused by what kind of factors?
    • intrinsic
    • during 1st trimester
  119. Dysformations are caused when?
    during second trimester
  120. Disruptions result from what?
    destruction of normal fetal tissue
  121. Pax6 is a TF needed for the development of what?
  122. DiGeorge syndrome is caused by the deletion of what gene?
  123. What is Lissencephaly?
    What is it caused by?
    Accompanies what syndrome?
    • smooth brain
    • failed cell migration
    • Lis Gene
    • Miller-Dicker syndrome
  124. PAX3 is involved in what syndrome?
    What are the symptoms?
    • Waardenburg syndrome
    • deafness
    • pigment malformations
  125. Hirshsprung disease involves what gene?
  126. Hirshsprung disease results from faulty migration of what type of cells?
    neural crest----absence of parasympathetic ganglions
  127. What gradient establishes the anterio-posterior axis?
  128. Fetal retinoid syndrome is caused by what?
    use of isotretinoin
  129. Thalidomide causes what kind of birth defects?
    limb defects
  130. Epiblast of the inner cell mass will become what?
  131. Hypoblast of the inner cell mass will become what?
  132. Ability to compensate for loss of cells is called what type of development?
    regulative development
  133. Patterning involves what genes?
    HOX genes
  134. Hox genes code for what?
  135. TF for lower limbs
  136. TF for upper limbs?
  137. Greig-cephalopolysyndactyly is caused by what gene?
  138. Rubestein-Taybi syndrome is caused by what?
    CBP mutation
  139. Most animal cell proliferation is regulated at what stage?
  140. What cells are controlled in G2 phase?
  141. MCM bind where?
    origin of replication
  142. Mutation in ATM causes what?
    Ataxia Telangiectesia
  143. Double stranded breaks are recognized by what ?
  144. p21 inhibits what CDK and cyclin?
    CDK2/cyclin E
  145. What factors stimulate the synthesis of cyclin D?
  146. What inhibits bcl2/bclx and activates bax and bak?
    nuxa, puma
  147. in the apoptotic pathway what activates puma, noxa?
  148. In the FAS induced apoptotic pathway, what activates bax?
    bid, bad
  149. Normally bcl-2 is bound to what?
  150. Puma/Noxa binds to what? releasing bax?
  151. What repairs double strand breaks?
  152. What genes play a role in regulating estrogen and androgen receptors?
  153. What syndrome is produced by a microdeletion of the p arm of chromosome 5?
  154. What is the only condition which has been treated by gene therapy?
  155. Patients with retinoblastoma are at risk for developing what?
  156. Blood transfusions in thalasemia may produce what adverse effect?
    iron overload
  157. Ornithine Transcarbamoylase deficiency is treated with what?
    sodium benzoate
  158. How is familiar hypercholeserolemia treated?
    by introducing bile acid binding agents
  159. Phlebotomy is used to treat what?
    Hereditary hemochromatosis
  160. Peniciliamine is used to treat what condition?
    copper accumulation if Wilson's disease
  161. Treatment for gout?
  162. What is used to prevent the degradatio of the defective CFTR protein in mice?
  163. PEG helps to improve symptoms of what ?
    adenosine deaminase deficiency
  164. How is Gaucher's disease treated??
    by targeting glucosyl ceramidase to lysosomes where it is deficient
  165. How are premature stop codons treated?
    by incorporating tyrosine and allowing for translation to continue
  166. In what disease are stop codons treated by gentamycin?
    Cystic Fibrosis
  167. What condition is treated by increasing gene expression?
    hereditary angioedema
  168. Decitabine (Cytidine analog) treats Sickle cell how?
    by promoting the the production of HbF which impedes polymerization of Hbs
  169. RNAi is used to degrade RNA that synthesizes long polyglutamine tract in what condition?
  170. When are cancers occuring at an earlier age, bilateral and multiple?
    When they are hereditary
  171. What oncogene causes Hereditary Papillary Renal Carcinoma?
  172. What causes Mutliple Endocrine Adenomatousus?
  173. RET and MET are both what?
    tyrosine receptor kinases
  174. What tumor suppressor gene is involved in Li Fraumeni cancer?
  175. What is the 2 hit hypothesis of cancer?
    both alleles need to be mutated in order to get a tumor
  176. What are 3 gate keepers who are tumor suppressors gene?
    • p51
    • nf1
    • rb1
  177. Loss of what gene leads to accumulation of beta catenin and its inducing of cell division?
  178. MLH1 and MSH2 participate in what?
    DNA mismatch repair
  179. What 2 conditions are caused by a faulty nucleotide excision repair system?
    • Cockanye syndrome
    • Xeroderma Pigmenotosa
  180. Loss of function of Ras mediated apoptosis leads to what condition?
    Hereditary Lymphoma
  181. Aflotoxin causes mutation of what tumor suppressor?
  182. Type II hypercholesterolemia is caused by a mutation on what gene?
  183. The gene for Friedrich's Ataxia is located on what chromosome?
  184. The gene for Myotonic Dystrophy is located on what chromosome?
Card Set
Genetics Block 4
Genetics Block 4