Molecular Genetics — Flashcards

What are the two types of DNA mutation that occurs in duchenne muscular dystrophy?

5 y/o boy comes with progressive muscle weakness that has resulted in numerous recent falls. -Physical exam: Bilateral calf enlargement. -He uses his hands and arms to help push himself to an upright position. -Genetic analysis reveals a point mutation within exon 48 of the gene encoding this muscle protein. -This patient's gene mutation has most likely resulted in which mRNA codon changes?

In an experiment, a protein mixture obtained from a cell culture is separated by gel electrophoresis and subsequently transferred to a filter membrane. -Labeled: Double-stranded DNA probes are used to detect a specific protein of interest in the sample. -What protein is most likely to be detected by this method? a.) Ras b.) C-Jun c.) B1- adrenoreceptor d.) S-100 e.) Adenylate cyclase

Describe these 2 genetics term? -Transition -Transversion

A group of investigators is studying the mechanisms involved in cancer pathogenesis. -They find that interaction of a certain growth factor with its receptor leads to the following sequence of event: 1. Binding of growth factor 2. Autophosphorylation of tyrosine residues 3. Activation of phosphoinositide 3-kinase 4. Activation of protein kinase B (Akt) 5. Activation of X What is the most likely direct effect of X upon activation?

A genetic researcher is comparing DNA replication process of prokarotic & eukaryotic cells. -E. Coli and human cells are cultured in separate media containing tagged nucleotides and their rates of DNA replicatin are determined. -Eukarotic DNA is more larger & more complex, but sill occurs in a timely manner. -Which features of eukaryotic replication best explains this obervation?

A researcher develops 2 functional mRNA sequences composed of CUC & CUU trinucleotide repeats. -He subsequntly incubates them. -After a few hours, it is found that both mRNA sequences produce polypeptide chains containing leucine repeats. -This observed finding is due to what genetic principles?

If a disease has an X-linked recessive inheritance pattern, it usually _____ skip generations

What is the mode of inheritance of IL-12 deficiency? _____

What is the mode of inheritance of Hunter syndrome?_____