Download Note: Incomplete sections will be updated when information

Note: Incomplete sections will be updated when information becomes available
MASSEY UNIVERSITY
COLLEGE OF SCIENCES
Paper Outline 2011
Paper Number and Title: 203203 Human Genetics
Credits value:
15
Campus: Manawatu
Campus: Albany
Campus: Manawatu
Semester: 1101
Semester: 1101
Semester: 1112
Mode:
Mode:
Mode:
Internal
Block
Distance
Calendar Prescription:
Aspects of genetics that are important in human biology. Topics include chromosome
abnormalities, genes and genetic disease, immunogenetics, cancer, ageing, complex traits,
family studies and populations.
Pre-requisites:
Co-requisites:
Restrictions:
162.101
162.253
E-Learning Category: Required - essential
Paper Coordinator Albany
Dr Gabrielle Schmidt-Adam
Office: Building 14, Room 10
Email: [email protected]
Phone: x. 9860
Paper Coordinator Manawatu:
And Distance Mode
Dr Neville Honey
Office: ScC2.06
Email: [email protected]
Phone: extn. 2573
Learning Outcomes:
On successful completion a student will be able to:
1. understand genetic principles
2. understand the role of genetics in human biology
3. communicate his/her understanding of human genetics
Alignment of Assessment to Learning outcomes
Assessment
–
Internal Mode
Semester test
4 x Online tests
Poster
Final exam
Assessment –
Distance Mode
4 x Assignments
Final exam
Learning Outcomes Assessed
1.
2.
3.
×
Contribution to Paper Mark
15%
10%
15%
60%
40%
60%
Note: Incomplete sections will be updated when information becomes available
Assessments and Deadlines
Internal Mode
Assessment
Due Date /
Deadline
Semester test
2 May
4 × Online tests
24 March
13 April
19 May
9 June
Poster
30 May
Final exam
See timetable
Distance Mode
Assessment
Due Date /
Deadline
4 × Assignments
Final exam
See timetable
Late Penalty
Paper completion
requirement
Late Penalty
Paper completion
requirement
The turnaround time for assignments will be no more than three weeks from the due date. It
is important to note that the specified timeframe applies only to those assignments submitted
by the due date, and does not necessarily apply to those submitted late.
Additional Requirements for Paper Completion
Student Time Budget:
A 15 credit paper equates to 12.5 hours per week, studying 4 papers full time equals 50 hours
per week.
Textbook and Other Recommended Reading, Online Resources:
Either: Human Genetics: concepts and applications, 8th edition, R Lewis
Or: Human Genetics: concepts and applications, 9th edition, R Lewis
There is a webCT site
Conditions for Aegrotat Pass and Impaired Performance:
If you are prevented by illness, injury or serious crisis from attending an examination (or
completing an element of assessment by the due date), or if you consider that your
performance has been seriously impaired by such circumstances, you may apply for aegrotat
or impaired performance consideration. You must apply on the form available from the
Examinations Office, the Student Health Service or the Student Counseling Service.
To qualify for an aegrotat pass on the final examination, you must have attempted at least
40% of the total formal assessment and your performance must be well above the minimum
pass standard, so that the examiners can be confident that you would have passed the paper if
you had completed the final examination. You may also apply for aegrotat consideration for
other compulsory assessment elements (such as Semester Tests) that occur at a fixed time and
place if you are prevented by illness, injury or a serious crisis from attending.
Plagiarism:
Massey University, College of Sciences, has taken a firm stance on plagiarism and any form
of cheating. Plagiarism is the copying or paraphrasing of another person’s work, whether
published or unpublished, without clearly acknowledging it. It includes copying the work of
other students. Plagiarism will be penalized; it is likely to lead to loss of marks for that item
of assessment and may lead to an automatic failing grade for the paper and/or exclusion from
reenrollment at the University.
Note: Incomplete sections will be updated when information becomes available
Grievance Procedures:
A student who claims that he/she has sustained academic disadvantage as a result of the
actions of a University staff member should use the University Grievance Procedures.
Students, whenever practicable, should in the first instance approach the University staff
member concerned. If the grievance is unresolved with the staff member concerned, the
student should then contact the College of Sciences office on his/her campus for further
information on the procedures, or read the procedures in the University Calendar.
203.203 Human Genetics
Lecture outline 2011
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Introduction: genes and the environment. Impact of genetic disease. Teratogens:
classes of teratogen, factors in teratogen action.
Chromosomes. The karyotype. Variations in autosome number: chromosome
21, autosomes, whole chromosome sets.
Variations in sex chromosome number: X and Y chromosome. Variations in
chromosome structure: duplication, deletion, inversion
Variations in chromosome structure: translocation, isochromosomes, ring
chromosomes. Other variants: mosaics, genetic imprints (disorders resulting
from mutant allele or uniparental disomy).
Sex development: mechanism, XY females, XX males, XY testicular disorders
in sex development (DSD), XX ovarian DSD, ovotestes DSD.
Genes and genetic disease. Molecular characterisation: mutations, globin gene
organisation.
Globin disorders (examples of codon substitution, loss of stop codon,
frameshift, new stop codon, hybrid protein, reduced protein levels).
Trinucleotide repeat expansion mutations (fragile X, Huntington). Genetic
characterisation: dominant or recessive mutant alleles.
Inheritance: pedigree symbols, patterns of inheritance (autosomal dominant and
recessive, X-linked dominant and recessive, Y-linked, mitochondrial).
Phenotypic characterisation: expression of a disorder (different genes, age of
onset, pleiotropy, mental function) variability in expression (expressivity,
affected expression, penetrance).
Cancer and Ageing. Cancer: cancer is a somatic genetic disease, Ames test,
identifying cancer genes, repair and stability genes (XP, AT).
Cancer: oncogenes (origins, CML, Burkitt’s lymphoma), tumour suppressor
genes (Retinoblastoma, p53, NF1).
Ageing: role of mutations, chromosome clock.
Ageing: genes that affect ageing, premature ageing syndromes, natural selection
and ageing.
Complex traits. Introduction: continuous traits, thresholds. Analysis: recurrence
risk, twin studies (% concordance, correlation coefficient)
Analysis: twin studies, cont. (heritability), genome wide association studies.
Disease: diabetes, obesity, Alzheimer.
Behaviour: studying behaviour (alcoholism).
Behaviour: neurotransmitters and personality (serotonin and unipolar affective
disorders, dopamine and schizophrenia, MAOA).
Behaviour: Intelligence (twin studies, genes, environmental factors), Issues.
Note: Incomplete sections will be updated when information becomes available
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Immunogenetics. Introduction to the immune system. Cellular response
(overview, HLA system).
Humoral response (overview, antibody diversity). ABO blood group (ABO
gene, H gene).
Immune system causing disease (Rh incompatibility, allergies, organ
transplants, autoimmune disease, immune deficiency disease).
Family studies. Genetic counselling: reasons, stages of counselling, counselling
in NZ. Genetic testing: reasons for testing.
Genetic testing: population screening, the personal genome (pharmacogenetics,
personalised cancer therapy).
The personal genome, cont (risk of complex disease). DNA profiles.
Diagnosis: cytogenetic studies, biochemical assays, DNA tests, genetic linkage
(LOD score).
Diagnosis: risk (probabilities of inheritance, factors that can affect risk
calculation, Bayesian analysis).
Managing genetic disorders: options, treatment strategies (tissue, biochemical,
gene product).
Treatment strategies, cont. (overcoming the effects of a mutant gene, germ line
or zygote gene therapy, somatic cell therapy).
Populations. Genetic variation (polymorphism, allele frequency, population
studies of disease). Human origins: the hominin lineage (Neanderthal).
Human origins: modern humans (Out of Africa or Multiregional, when did they
arise?).
Human dispersal: Europeans, Americas, Polynesians. Natural selection in
modern humans: founder effect or population bottleneck (porphyria,
Pingelapese blindness).
Natural selection in modern humans: disease (cystic fibrosis, malaria and sickle
cell anaemia, PKU, HIV), diet(vitamin D, lactose persistence, type 2 diabetes),
the future.
Eugenics: negative and positive eugenics, issues.