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23 Cards in this Set
- Front
- Back
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role of Rb
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G1 to S transition
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role of p53
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G1 to S
G2 to M |
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mutation in oncogene that causes cancer
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GOF
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mutation in tumor suppressor that causes cancer
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LOF
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mutation in telomerase that causes cancer
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GOF
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mutation in DNA repair that causes cancer
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LOF
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mutation in cadherins that causes cancer
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LOF
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loss of function mutations are usually what inheritance pattern
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recessive
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gain of function mutations are usually what inheritance pattern
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dominant
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two hit model of Rb
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start off with one mutant allele, increases chance of single mutation that will lead to familial retinoblastoma
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translocation of CML
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t(9;22) forms bcr-abl gene
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translocation of burkitts lymphoma
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t(8;14) forms Ig-myc
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two methods of gene amplification
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double minutes
homogenous staining regions |
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part of chromosome breaks off to form circular DNA that amplifies
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double minutes
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part of chromosome is copied over and over again
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homogenous staining region
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solar sensitivity
hypogonadism retardation |
xeroderma pigmentosa
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malar rash
immunodeficiency growth restriction |
bloom syndrome
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poor coordinated movement
dilated veins in eye |
ataxia telagiectasia
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skeletal abnormalities
bone marrow failure |
fanconi anemia
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defective UV endonuclease and thymine dimer repair
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xeroderma pigmentosa
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helicase deficiency
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bloom syndrome
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impaired DNA repair from ionizing radiation
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ataxia telangiectasia
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chromosomal abberations
bone marrow failure |
fanconi anemia
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