GENE30005: Human and Medical Genetics

One assignment (problem based) less than 1000 words due during semester (10%); two short tests (written and/or online) during semester (each 10%); a 3-hour written examination in the examination period (70%).

This subject is recommended if you are doing genetics as a major. It isn't a required part of the coursework but many of the topics you will have touched upon in previous subjects. I'd say this was probably the easiest genetics subject (next to GENE30002 although I scored higher for GENE30002) for me. It covers a bunch of interesting stuff. I think the first few lectures deal with haemoglobinopathies (Sickle cell anaemia, HbC etc) and how they occur etc. I suggest you memorize basic details concerning how they occur (i.e. a substitution mutation swapping glutamate to valine in codon 6, glutamate to lysine, creation of a cryptic splice site, etc). This is followed by sex determination which was pretty straightforward (at the end of this series of lectures there should be some diagrams in the notes concerning FOXL2, SRY etc in a pathway format. If you can understand these diagrams then that's good). Pretty sure there was some stuff on epigenetics, a bit on CRISPR/Cre-lox, etc. Also stuff on GWAs, linkage, missing heritability (easy marks on the final exam if you just remember like 5). Also stuff on chromosome structure and how to read them (short arm = p, long arm = q, etc) which is pretty easy. There is also chromosome changes like translocations, Robertsonian translocations, (for both just remember alternative segregation = good and leaves one homozygous normal and one homozygous balanced while the two unbalanced chromosomes result in bad gametes. Adjacent segregation = all are screwed. Note the loss in fertility in translocation carriers from all those dead gametes), inversion loops, etc. There is a bit on pre-natal tests and PGD too. Should probably remember what abnormal diploids are and what they result in (hytadidiform moles, ovarian teratomas) and the fact that they indicate parental imprinting and are thus evidence of epigenetics. Triploids are also evidence of epigenetics. Also know about parental imprinting and when it occurs/is wiped (will probably be a question on this). Know an example of a post-natal test such as that for PKU or Cystic fibrosis and also what treatments may be done (CF will be easy if you have done biomed as you cover that in M2M which is done in first sem).

The assessment is 2 tests, an essay, and an exam. One test was written and worth 10% I think. The essay was worth 5% and wasn't really an essay (actually maybe they were worth 7.5% each. Not sure). We got randomly assigned a pedigree type (autosomal dominant, X-linked, reduced penetrance, etc) and had to draw a pedigree for it and explain what made this pedigree differ from other pedigrees. The other test was online and composed of 15 MCQ. Pretty easy since you can study beforehand and then use your notes/google during the test.

The exam was MCQ followed by those short answers (section B) where you have options in a box and have to fill in the blanks using those options (may be used more than once), followed by normal short answers. Some surprises in the MCQ because the practice exams were outdated. I remember one section B question was entirely on the end of one lecture on evolution concerning Bantu (I think farmers?) and something-origin hunters and their migration/admixture history. Had to guess pretty much the entire question (with some inferences based on vague things I remembered lmao). I remember there being a lot more evolution related questions on the exam than I had expected (considering we only did 2 lectures on human evolution). Some of the evolution stuff was a bit tricky (mtDNA analysis shows that the mtDNA of I think it was Mungo man is NOT basal to Homo Sapiens. Not gonna check my lecture notes but pretty sure he said their mtDNA split off really early from ours so it can't be basal). Also for the consanguinity effect I noticed a lot of people got confused. Can't remember the exact thing but between first cousin marriages or w/e, the LESS alleles of a recessive trait there are in the population, the MORE homozygotes will form. i.e. lower q/recessive allele is, higher proportion of affected children in the inbred population (read the graph and it makes sense).
All in all this subject is pretty easy if you have a genetics background (and even if you don't there aren't really any tricky concepts). The main drawback of this subject IMO is the lack of up-to-date practice exams.

Yes, with screen cap.

Various

Yes, but not very good. The latest one is 2011 (the rest are 2009 and earlier but during this period it was a different subject/had a different code). There was a fair bit of stuff in them that was no longer in the course. There are also practice tests that you should do as revision for actual tests but also for the final exam.

4.5 Out of 5

None.

3 x one hour lectures per week.

2014 Sem 2

H1

5% pedigree analysis/ mcq assignment (used as a review for first year topics)
2x 7.5% midsemester tests made up of MCQs
80% 3hr end of semester exam (MCQ and essay/short answer)

This subject deals with how genetics relates to diseases. This includes specific diseases (eg thallasaemias) and their genetic basis, cytogenetics, cancer, sex determination, transgenic organisms and genetic mapping. As there were a lot of topics, we weren't required to have a deep knowledge of any single one, rather we just needed a general understanding of the genetic concepts. While overall I found the subject to be interesting, there were some topics (and lecturers) to be boring. The assessment was fairly easy. The assignment was basically 1st/2nd year problems/questions and the mcq for the most part weren't too difficult either. The exam was fairly challenging, the majority of the marks were short answer essay type questions, covering the main topics. During my exam review i fell into the trap of answering the past exam questions in my head. In hindsight I should have actually practiced writing and formulating actual answers. As a result I struggled for time in the actual exam.
NOTE: this subject is optional for a genetics major, however most of the people do it anyway. Also this subject is available as a breadth/science elective, but I wouldn't recommend it, as previous genetics knowledge (including third year genetics) helps you understand the topics a lot.

Yes, without screen capture

Various

Yes

4 out of 5

none, lecture slides are sufficient

3x1hour lectures per week

2012 semester 2

H1 (88)