Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
22 Cards in this Set
- Front
- Back
|
Xeroderma pigmentosum |
Autosomal Recessive Genes: XPA-G + XPV Chromosomes: 9 + 6 Defect in: Nucleotide Excision Repair Repair of double-stranded Breaks (affects activity of helicases, nucleases, DNA polymerase) (CHA: increased response to induction of aberrations- UV)
|
|
|
Trichothiodystrophy |
Autosomal Recessive XPB + XPD defect in: Nucleotide Excision Repair |
|
|
Cockayne Syndrome |
Autosomal Recessive CSA + CSB defect in: Nucleotide Excision Repair |
|
|
Burkitt Lymphoma |
Environmentally Caused (not genetic) c-myc gene chromosome 8 defect: chromosomal translocation
(induces massive transcription of fusion protein) |
|
|
Multiple Endocrine Adenomatosis (Type 2) |
Autosomal Dominant oncogene RET chromosome 10 |
|
|
Retinoblastoma |
Autosomal Dominant Rb1 gene chromosome 13 defect: Deletion
(inhibits Rb protein from regulating cell cycle) |
|
|
Wilms Tumour |
Autosomal Dominant WT1 gene chromosome 11 defect: Deletion (allows for uncontrolled cell growth)
Related with: WAGR Denys-Drashov syndrome Beckwith-Wiederman syndrome |
|
|
Von Hippel-Lindau Syndrome |
Autosomal Dominant VHL gene chromosome 3 defect: Deletion (prevents production of VHL protein or produces abnormal version) |
|
|
Familial Melanoma |
Autosomal Dominant CDKN2 gene chromosome 9 defect: formation of inhibitor of CDK4 (this blocks it's ability to regulate cell cycle during S phase) |
|
|
Neurofibromatosis (Type 1 - Von Recklinghausen) |
Autosomal Dominant NF1 gene chromosome 17 defect: deletion (produces abnormal version of neurofibromin) |
|
|
Neurofibromatosis (Type 2) |
Autosomal Dominant NF2 gene chromosome 22 defect: deletion (produces abnormal version of merlin) (unable to regulate growth and division of cells) |
|
|
Multiple endocrine adenomatosis (Type 1) |
Autosomal Dominant MEN1 gene chromosome 11 defect: no formation of MEN1 gene (deletion) |
|
|
Familial adenomatous polyposis |
Autosomal Dominant APC gene chromosome 5 defect: affects ability of cell to maintain normal growth |
|
|
Breast and Ovarian Cancer |
Autosomal Dominant - 80% penetrance BRCA1 + BRCA2 gene chromosome 17 + 13 defect in: reparation of DNA deletion (unable to control cell growth) |
|
|
Hereditary nonpolyposis colon cancer |
Autosomal Dominant with 80% penetrance MLH1, MSH2, MSH6, PMS1, PMS2 chromosome 3, 2, 7 defect in: reparation of DNA deletion (unable to control cell growth) |
|
|
Li-Fraumeni Syndrome |
Autosomal Dominant TP53 gene chromosome 17 defect: deletion (unable to control cell division) |
|
|
Ataxia teleangiectasia |
Autosomal Recessive ATM gene chromosome 11 defect in: DNA reparation (DSB) (CHA: rearrangement of chromosomes 7, 14 +22) -chromosome instability |
|
|
Bloom Syndrome |
Autosomal Recessive BLM gene chromosome 15 defect in: Replication double-stranded breaks (affects activity of DNA helicase) (CHA: sister chromatid exchanges, exchanges between homologs, DSB) |
|
|
Fanconi Anemia |
Autosomal Recessive FANCA-G genes X chromosome defect in: DNA repair activation (DSB repair) (CHA: breaks and chromatid exchanges) |
|
|
Nijmegen Breakage Syndrome |
Autosomal Recessive NBS1 gene chromosome 8 defect in: Reparation of DNA double stranded breaks (CHA: translocation of chromosomes 7 and 14) -failure to produce fully functional immunoglobins & T receptors |
|
|
Werner Syndrome |
Autosomal Recessive WRN gene chromosome 8 defect of: exonuclease and helicase activity (production of abnormal version of Werner protein) |
|
|
Myeloid Leukemia |
Spontaneously Caused (not genetic) ABL1 gene + BCR gene chromosomes: 9 + 22 defect: translocation formation of fused gene - Philadelphia chromosome |
