Saturday, January 15, 2011

Genetics problem for tutorial discussion

The postdoc and I just created an excellent genetics problem for the pilot section of my new course.

The problem needed to get students thinking about how changes to genes affect phenotype, but it couldn't involve crosses because they won't be doing those for another couple of weeks.  That rules out just about all the problems in the textbooks.

This new problem has everything:
  • haploinsufficiency
  • dominance
  • repressor gene
  • activator gene
  • natural polymorphism
  • important human diseases
  • screening of newborns
  • problems important in developing countries
  • amino acid substitutions
  • isoelectric focusing to detect changed protein charge
  • mixed-allele dimers
  • differences in protein levels
  • developmental regulation
  • interactions between fetus and mother at the placenta
  • suppressor mutations (mitigating the deleterious effects of another mutation)
  • natural selection in human populations
  • mutations that are very well characterized (DNA, RNA, protein, function)
  • genome-wide SNP analysis
  • a mutation that's lethal when homozygous but beneficial when heterozygous
  • new research in a high-profile journal (Sept. 2010 paper in Nature Genetics) 
  • students label subunits in tetramers
  • students predict bands in gels, for different genotypes and developmental stages
  • students predict protein levels through human development (draw lines on graph)
  • students diagram regulatory interactions between genes, for different genotypes
But it's still straightforward enough for second-year students who are just beginning to learn genetics (no crosses, no matings, no trees, no pedigrees). 

What do you think this fabulous problem is about?


biology101 said...

Is it something about thalassemias and hemoglobinopathies? It sounds amazing and I'd love to hear more about it once you're done!

Rosie Redfield said...

Yes! Sickle-cell disease and hereditary persistence of fetal hemoglobin. If I don't find your email address, email me and I'll send it to you.