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