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15 Cards in this Set
- Front
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All basic concepts relating to Genes |
hahaha lol you should know these dork Phenotype Genotype Chromosomes Karyotype Transcription and translation proteins polygenic inheritance alleles mitosis meiosis |
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What is Down Syndrome? |
a chromosomal abnormality impacting one in 1100 children in Australia. It has distinctive physical characteristics, or phenotype, (sloping forehead, flattened nose etc) and a large effect on IQ. Cannot be overcome |
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What is klinefelter's syndrome? |
A chromosomal abnormality that effects the person (usually male) in three ways Physical development: weak muscles, lagging physical development. Language: between 25 and 85% of XXY males have some language difficulties. Social development: XXY males tend to be more quiet and undemanding as compared with XY males |
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What is polygenic inheritance? |
When traits are governed by more than one gene. This applies to most traits and behaviours of interest to behavioural scientists |
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What is a mutation? |
Mutation is theprocess of change in the sequence of DNA. Mutations are thesource of genetic variation and the basis for natural selection. They are also thesource of genetic damage that contributes to cell death, genetic disease andcancer. Mutations have awide range of effects on organisms, depending on the type and location ofmutation: can occurspontaneously or be induced by external factors (chemicals and radiation). Four maintypes of mutations: Base substitutions, deletions of DNA, insertions of DNA, whole or partialchromosomal abnormalities |
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What is Tay Sachs disease? |
Fatal, autosomalrecessive neurodegenerative disease of infancy and early childhood.Rare in mostpopulations. Caused by mutationsof HEXA gene on a specific chromosome. Popualation studiesand pedigree analyses suggest that mutations have risen from a small founderpopulation. |
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What is Huntington's disease? |
A progressive neurodegenerative disorder. Autosomal dominant. Mean onset ~40 yrs,death 12-15 years afterwardPrevalence 5-10 per100k Symptoms include: Cognitivedegeneration Personality change,memory loss and depression Choreic and slowmovement |
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What is schizophrenia |
Fundamental andcharacteristic distortions of thinking, and perception that areinappropriate or blunted. Psychopathologicalthoughts, Hallucinations, etc. Onset typicallyoccurs in young adulthoodAfftects aout .5% ofthe population Course ofschizophrenic disorders can be continuous or episodic. Genetic risk forschizophrenia is more likely to be continuous than categorical. The last 5 years ofgenetic research has produced evidence that genetic resk of SCZ is largelypolygenic |
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What is fragile X syndrome? |
The mostcommon inherited form of intellectual disability. Expansion mutationof a CGG repeat sequence in the FMRI geneLeads to the silencingof the gene and absence of the gene product – the fragile X mental retardationprotein. This protein isessential for synaptic plasticity. if itis not there then the brain loses its plasticity and the person cannot learn. Boys are moretypically effected than girls |
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What can we do to help genetic disorders? |
For the most part, there isn't much that we can do. However, for other disorders we can make simple changes to help them i.e. testosterone supplements for kleinfelter's syndrome or dietary modifications for Phenylketonuria. |
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What is Phenylketonuria? |
Children with this(PKU) are unable to metabolise various things including dairy.Usually in meats,eggs, fish, nuts and some artificial foods. PKU is a disorderthat is related to a defective gene on chromosome 12 on which the body cannotbreak down this amino acid. Causes problem with brain development. With early diagnosisand a properly restricted diet, however, mental retardation resulting from PKUcan be avoided. |
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name and describe 3 forms of epigenetic mechanisms that you are required to understand for this course |
Epigenetic mechanisms: mechanisms that regulate gene expression and can be influenced by external. Histone modification: whether the gene has a certain characteristic or not. DNA methylation: whether the gene is permitted to be transcribed or not microRNA: involved in the regulation of gene expression. |
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How are genes and Autoimmune disorders related? |
Interplay betweengenetic and environmental factors may predispose and progress autoimmunediseases: Exposure to UVradiation, infections, tobacco etc. At this stage, theprecise epigenetic mechanisms involved in autoimmune disorders are unclear. |
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How are genes and psychiatric disorders related? |
Early-life exposuresto stress or drugs may exert life-long effects on neuropsychiatric health. Exposure to stressor drugs during neurodevelopment may have a broader impact on epigenetic statesand brain circuits, than if they occur later in life Data from animalmodels and post-mortem human samples suggests a diverse array of epigeneticregulatory mechanisms Mediation oftranscription abnormalities may underlie depression and addiction It is the interaction of many different epigenetic mechanisms and genes that causes these psychiatric disorders, but these are very complicated and we don't yet know what they are. Finding out what these are is a challenge to the psychiatric community. |
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how do Nutrition and genetics impact eachother |
Poor nutrition can stunt growth and cause severe developmental problems. Therefore, the development of phenotypes specified by genes and are altered due to the degenerative effect that nutrition has on epigenetic mechanisms e.g. low rations in Germany during WWI: low protein and calorific intake of pregnant mothers had terrible effects on the unborn child. |
