For mutations, does a missense mutation *always* result in a changed amino acid- which may or may not result in a defective protein?
And a synonymous mutation does not result in a different amino acid?
Are both of these considered examples of “point” mutations?
A missense mutation, by definition, results in an amino acid change.  Depending on what the amino acid change is (conservative vs nonconservative) and it’s location in the protein, it may have no effect on the protein function.  The students don’t need to know this.  They just need to identify any mutation resulting with any amino acid change as a missense mutation. For the purposes of this event, a synonymous mutation is a change in a nucleotide which results in the same amino acid being used.  These are sometimes called “silent mutations” but a synonymous mutation may not actually be “silent” as it may still affect gene regulation, splicing etc. Again, the students don’t need to know that. Missense, synonymous and nonsense mutations are all point mutations but I will not use the term point mutation in the event and would not accept the answer of point mutation. They would be expected to identify it as one of the three.

Question/Answers in Gene-ius event

Question: If you are using fill in the blank type questions will you typically provide students with a list of options (e.g. metacentric, submetacentric, acroncentric, transcription, translation, mitosis, meiosis etc . . .) or will you expect students to know these terms and spellings without prompts?
Answer: Students will not necessarily be given a list of options for fill in the blank questions.  However, this type of question is used sparingly and spelling will not count as long as we can discern what the intended answer is.

Gene-ius Magnetic Chromosome Kit


I am coaching for “Gene-ius”. I recently got the new karyotype model for practice and noticed that we were given 72 chromosomes on the magnetic sheet to cut out, however, on the content sheet it says that we are supposed to have 75 chromosomes. I was just wondering if this was a typo on the sheet, or if I am missing a piece of the set? Thanks

Correction to the content list in the Magnetic Chromosome Kit Guide:

·     Magnetic chromosomes (ideograms of G-banded human chromosomes) – The kit initially comes with one magnetic sheet containing 72 chromosomes (3 each of autosomes 1 to 22, 3 X’s and 3 Y’s). Individual chromosomes will need to be cut out of this sheet (easy to do with a pair of good scissors). Extra chromosomes are included in order to simulate trisomies and in case of the loss of a chromosome.


Question:  In the team workshop presentation, one of the sample questions asks students to write down the amino acid sequence to start the dystrophin protein. How/when are students supposed to know to look for a start sequence? Will every question that asks them to write out an amino acid sequence include a start?
Answer: If given a DNA sequence not starting with ATG, students should be able to locate the first ATG and start reading the triplet codons from that point. Please see the samples in the study guide for more information (page 19).

Updated GENE-ius Team Workshop slides

Q: Hello, First time coach here, fumbling my way through. I am watching the GENE-ius workshop and when answering question re: using the Codon chart, 13:55 into the workshop video, there is question about a mutation in the gene sequence. The amino acid sequence is identified as “methionine, leucine, tryptophan, tryptophan, glutamic acid, glutamic acid, stop.” The way I am reading it, there is only one glutamic acid before the Stop. Could you please check that for me? I just want to make sure I am understanding it correctly and that I teach the kids correctly. I think there is an error in the answer given. If I am mistaken, then I apologize, and I will need some further clarification on how to read the sequence. Thank you!! 

A: Thank you for your comment.  You are correct.  The correct amino acid sequence resulting from the mutation is Met-Leu-Trp-Trp-Glu-Stop. I am unable to modify the video from last year but the corrected pdf of the PowerPoint used during the presentation has been posted here.