Week 1: Molecular Genetics Flashcards
Stages of cell cycle
G1, S, G2, M
Steps of Mitosis
Prophase, Metaphase, Anaphase, Telophase
Epigenetics
Heritable, reversible changes in gene function without change in DNA sequence
Imprinting
Differential expression of alleles at a single locus, depending on whether the allele is inherited from mom or dad
Point Mutation
Base substitution in which one bp is altered
Silent Mutation
Change in nucleotide without change in aa
Missense Mutation
Change in aa (may/not affect protein function)
Nonsense Mutation
Introduce a premature stop codon
Sensitivity Calculation
True Positives/ (True Positives + False Negatives)
Specificity Calculation
True Negatives/ (True Negatives + False Positives)
Positive Predictive Value Calculation
True Positives/ (True Positives+False Positives)
Negative Predictive Value Calculation
True Negatives/ (True Negatives + False Negatives)
Inheritance of Dyskeratosis Congenita
AD or AR
What is the etiology of Dyskeratosis Congenital?
Defect in telomerase
3 major features of Dyskeratosis Congenita
Anomalies in pigmentation and fingernails, premature grading, BM failure
What is the etiology of Lynch Syndrome?
Defect in DNA mismatch repair
What are the mismatch repair genes?
MLH1, MSH2, MSH6, PMS2
What is the etiology of MUTYH-associated polyposis?
Defect in base excision repair
What is the etiology of Xeroderma Pigmentosa, Cockayne syndrome and Bloom syndrome?
Defect in nucleotide excision repair
What are 4 methods for fixing single-stranded DNA mistakes?
DNA polymerase proofreading, mismatch repair genes, base excision repair, nucleotide excision repair
What are the 2 mechanisms to fix double-stranded DNA breaks?
End-joining, homologous recombination repair
What are the 3 steps of RNA processing?
Capping of 5’ end, splicing to remove introns, cleavage and Poly-A of 3’ end
Abnormal splicing is observed in what AR disease that affects lungs, pancreas and reproductive tract?
CF
What is the start codon and what aa does it encode?
AUG- met
