Molecular Genetics — Flashcards

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

34 y/o woman comes for breast examination. -Screening test was performed using Polymerase chain reaction (PCR) to amplify the target of exon. -Gel electrophoresis to assess the size of the exon compared to the wild type allele.What features must be known in order to perform the amplification part of this analysis?

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

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?

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?

Describe these 2 genetics term? -Transition -Transversion

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?

What is the mode of inheritance of hemophilia C? _____

Which cell cycle phase(s) are NOT part of interphase? _____

What is the mode of inheritance of Marfan syndrome?_____