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Lecture 6

Bio of Cancer Lecture 6

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Department
Biology
Course
BIOL 4010
Professor
Samuel Benchimol
Semester
Fall

Description
Biol 4010 Lecture 610252010ReviewRb first hit is inheriting a mutation from one parentnd2 hitwe want to have a biallelic mutationRb behaves as a recessive geneinactivating mutation that is inheritednd2 Hit1 point mutation on remaining wild type alleleindependent mutation2 independent deletionsmall internal deletion 3 codon to a bunch of exonspoint mutation frameshiftleading to truncationschromosomal deletions3 mutations that disrupts expressioncompound heterozygote2 different mutations targeting the same gene4 Chromosome loss5 epigenetic silencingallelic conversion results in the same mutationnondisjunction the chromosomes do not move to the poles equally so the mutation chromosome goes to one cell and gets duplicated this is what is most commonly seen in RbLOH showed that it was the complex mechanism and not the simple mechanism deletion chromosome loss etc that occurs in the bodygene conversion can give rise to loss of heterozygosity although more rarehemizygousone allele that has a mutation affecting its functionLoss of heterozygosity LOHto do a LOH you need a probe and you need to know where the probe maps on the chromosomeprobe is pYNZ22 is polymorphic mapped to chromo 17 short armhas no functional significance its just a useful marker used to distinguish variant DNADNA was digested with BamHI and probe hybridized to DNA using Southern blotneed normal and tumor DNA from the same patient
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