systenms to cells lecture 6-8

Question 1

using pedigree analysis to determine whether a phenotype is genetic in origin

Answer 1

1. if a phenotype has a clear mode of inheritance it is likely genetic
2. x linked condition = fathers cannot pass condition onto their sons
3. phenotype skips genrations = likely to be recessive
4. autosomal dominant = doesnt skip generations, males and females equally affected, usually at least one affected parent.

Question 2

how gene mapping stategies can identify affected chromosomal domains

Answer 2

1. gene mapping stategies identify chromosomal regions linked to disease
2. we can use STRs - short tandem repeats of DNA, each individual differs in the number of repeats, so we can match the phenotype to the number of repeats on the chromsome section.

Question 3

the candidtae gene approach

to link a gene to a phenotype

Answer 3

1. a candidate gene is a gene that is a gene that is considered likely to cause or contribute to a particular trait or disease, based on its location in the genome and/or known biological function.
2. involves testing these genes for mutations or variations that are statistically associated with the phenotype in question

Question 4

is there a genetic component to aggression

Answer 4

1. Genes related to the regulation of neurotransmitters, such as MOXA (monoamine oxidase A), have been linked to aggression.
2. (MOXA and MOXB) function is to metabolise excess neurotransmitters, which effectively calms the fight or flight response. so if the enzyme isnt working, do they stay in this high stressful state
3. Twin studies have shown higher concordance rates for aggressive behaviors in identical twins compared to non-identical twins. This suggests a heritable component, as identical twins share nearly all of their DNA, while non-identical twins share about 50%.
4. • Deficiency in MOXA gene(mutation), prolonged adrenaline rush, more likely to be aggressive.

Question 5

how DNA sequencing technology has advanced in last 20 years

Answer 5

MinION = the only portable, real-time device for DNA and RNA sequencing

Question 6

heritability

Answer 6

is a measure of how well differences in peoples genes account for differences in their traits.

Question 7

phenotypes and complex genes

Answer 7

1. most traits involve multiple genes and environmental factors.
2. identifying complex genes = populations and GWAS
3. even if you have variation in a non-coding region, these can still be inherited over multiple generations so we can still detect them in a population

Question 8

haplotype

Answer 8

= a set of DNA variants along a single chromosome that tend to be inherited together

Question 9

how genome wide association studies links genes to complex phenotypes

Answer 9

1. GWAS can link genes to complex traits by scanning the genomes of many people to find genetic variations in SNPs associated with a specific trait.
2. requires appropriate controls
3. GWAS compares the SNPs between individuals with a particular phenotype (e.g., a disease) and those without it.

Question 10

how personalised medicine uses genetic data to improve healthcare outcomes.

Answer 10

1. personalised medicine is treatments that are linked to specific genetic mutations.
2. in cancer research, without it, some benefit some do not, with it each patient receives the right medicine for them through (blood, DNA, urine analysis)
3. By combining genetic, clinical, medicines and lifestyle data we can find common factors and causes of variation, changing how diseases are thought of and treated.

Question 11

latest clinical guidlines for diabetes

Answer 11

1. more more and sit less
2. weight train at least twice a week
3. do at least 150mins to 300mins a week of moderate intensity, or 75-150 mins of vigorous activity

Question 12

benefits of physical activity

Answer 12

1. for those with diabetes, low PA= hyperglycemic state.
2. • The cellular and biochemical mechanisms which impact vascular functions are: enhanced protein kinase C activity and oxidative stress.