GENETICS exam 3

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Across
  1. 2. Continuous/quantitative traits, do not fall into specific classes but have a wide distribution of possibilities
  2. 7. indicates the genes in the region are "turned off"
  3. 10. enzyme group that de-modifies the epigenetic code eg: Deacetylases, demethylases, phosphatases
  4. 13. DNA hybridized with DNA probe, gel electrophoresis to a nitrocellulose blot
  5. 14. a genetic disease that results from the mutation of genes that control or influence the cell cycle
  6. 15. MZ twins that have the same disease means the disease is .....
  7. 17. single gene that influences several pathways
  8. 19. malignant embryologic tumor of retina in infants, mutation in Rb1
  9. 22. process that involves cutting out a mutated (or any) section of DNA
  10. 25. defect in gene encoding GALT, autosomal recessive, may cause brain damage, cataracts, jaundice. Infant cannot break down galactose
  11. 29. most common sequencing technique, ddNTP added one type at a time and shows where each letter is in DNA viat gel electrophoresis
  12. 30. region of the genome with higher C or G sites, frequently very methylated
  13. 32. defect in mismatch repair, mutation in the mismatch repair genes MLH1, MSH2, MSH6, PMS2. Large increase in risk of cancer
  14. 33. method used to rapidly produce very large amounts of specific DNA segments/DNA amplification
  15. 34. cancer that begin in cells of the immune system
  16. 37. Familial Adenomatous Polyposis loss of APC allele, causes activation of C-myc and oncogenes. Hundreds of adenomatous polyps in colon by age 20, often progresses to cancer
  17. 38. two embryos that fuse and cause regions within the body with different genetics
  18. 40. indicates the genes in the region are "turned on"
  19. 42. chromosomal deletion that is too small to be noted on the karyotype
  20. 44. first step in PCR - divide two strands
  21. 45. a group of genes that are closely linked and inherited as a group
  22. 51. RNA hybridized with DNA probe, procedure is the same as southern blott
  23. 53. all the mitochondria in the cell have the same DNA, for better or for worse
  24. 55. a labelled primer that is used to identify a target DNA sequence
  25. 57. second step in PCR - add a primer
  26. 58. discontinuous/discrete traits, only a few possible phenotypes
  27. 59. mutation or loss of MECP2, causes drop in language and motor skills, seizures, autistic behavior, washing hand motion. Based on the x-inactivation pattern
Down
  1. 1. when only one MZ twin has the disease
  2. 3. one of the two female X chromosomes in inactivated in every somatic cell
  3. 4. fluorescent probes that can identify gains or losses on chromosomes.
  4. 5. neoplasia of skin or other epithelial tissues
  5. 6. a virus that changes genome and results in the development of cancer
  6. 8. the study of changes in organisms caused by modifications of gene expression through processes other than alteration of the genetic code itself
  7. 9. short sequences of DNA that are the same forward and backward, site of restriction endonucleases
  8. 11. third step in PCR - DNA polymerase
  9. 12. mutation early in embryogenesis that creates different regions of the body that express the mutation
  10. 16. a genetic variant that can be observed by cleaving DNA into fragments with a restriction enzyme
  11. 18. gene that when mutated significantly increases the risk of breast, ovarian, and uterine cancer
  12. 20. the mitochondria in a cell have different DNA
  13. 21. red flags that indicate genetic testing should be pursued
  14. 23. proteins that interact with modifications to the genetic code eg: bromodomain, PHD finger, WD40 repeat
  15. 24. national genetic screening that began in 1965
  16. 26. either mtDNA or DNA, defects in ETC, can be caused by about 75 different genes
  17. 27. partial or complete loss of thyroid gland, causes intellectual disability if not treated.
  18. 28. neoplasia that begins in the bone, cartilage, fat, etc (connective tissues)
  19. 31. epigenetic phenomenon involving DNA methylation of specific regions of the genome - causes parent of origin specific expression
  20. 35. visual failure, MS-like illness, mtDNA mutation for complex 1. Point mutations
  21. 36. a gene whose product works to transform normal cells into tumor cells
  22. 39. mtDNA mutation at MT-TK, MT-TLI, etc. Increase serum lactate, pyruvate and causes neural and muscular problems
  23. 41. law that protects against discrimination based on genetics
  24. 43. enzyme group that modifies the epigenetic code of DNA eg: acetylases, methylases and phosphorylases
  25. 46. cancer that begins in blood forming tissue
  26. 47. disorder characterized by underproduction of normal globin proteins
  27. 48. essential gene/protein that stops progression to S&M phases of mitosis, it is mutated in 50% of all cancers
  28. 49. mutations in gene p53, causes a ton of different cancers
  29. 50. protein hybridized with antibodies to detect proteins in a tissue sample
  30. 52. cancer that begins in cells of the immune system
  31. 54. a chip with thousands of ssDNA that is able to identify several target sequences very rapidly, can do hundreds of pts at once
  32. 56. each probe is a different color, is able to identify every chromosome present, looking at aneuploidy, polyploidy, or translocations