Flashcards in Week 2 Deck (77)
complex inherited disorder?
Something that has been inherited but is not following mendalians rules
A disease caused by a number of genes/alleles
Disease caused by a number of factors including both enviromental and genetic
What is cluster headache?
very sharp headache that is usually only one one side of the brain and last for a few weeks
What is Lambdas s ?
The relative risk of someone inheriting a disease that is already in there family in relation to the general population?
Is the risk of inheriting a disease greater for the general population or a person whos sibling has the disease and why? Lambdas s
person who has a sibling because of genetic similarities with there sibling
Is blood pressure a mendalian inheritance?
No it is affected by a number of factors
Give examples of congenitial malformation
cleft lip/palate, congenital hip dislocation, congenital heart defects, neural tube defects, pyloric stenosis, talipes
What can the mother take to reduce the chance of neural tube defects?
Take folic acid before the preganancy too 3 months after conception --> reduce chance by 50% too 70%
Give examples of acquired disease of childhood and adult life
asthma, autism, cancer, diabetes mellitus, epilepsy, glaucoma, hypertension, inflammatory bowel disease (Crohn disease), ischaemic heart disease & stroke, bipolar disorder, multiple sclerosis, Parkinson disease, psoriasis, rheumatoid arthritis, schizophrenia
What is the genome wide assoication study?
when you get two groups of people one controlled and one test group. You try to make everything identical between the two groups such as age, ethnicity, gender except for one group has the disease. You then compare there genome for the cause of the disease
What is linkeage anaylsis used for?
Does SNPs usually cause a disease?
No they are usually harmless
What is the common age too get AD?
What are the common symptoms of AD?
Memory loss, brain damage and inability to cope
What is the cause of AD neurologically?
shrinkage of brain, tangles of b-amyloid protein in nerve fibres of hippocampus
what is the relative risk of second sibiling having AD ?
ls is 3 to 10
What is the genetic cause of early onset AD?
is caused by Genetic heterogeneity
Which polymorphism of apo-lipoprotein E has greatest cuase of onest of AD and which gives the best protection
APOE 4 while APOE 2 gives the biggest proteciton
Having the APOE4/E4 reduces the onset of AD to when
from 84 yrs old too 68
what is the leading causeirreversible central visual dysfunction?
AGe related macular degeneration
What are the two most common genetic and enviromental causes of age related macular degeneration ?
CFH (1q), ARMS2 (10q) and smoking, light (UV to the eye)
Examples of polygenic disease
schizophrenia, type II diabetes, Alzheimers and age-related macular dystrophy
Can one mutation cause cancer?
Usually no need a multiple of mutations to cause cancer unless you have already inherited mutated genes
What factors affect the pentrance of someone having cancer?
genetic variation and enviromental factors can affect the penetrance of a population
what does a gate keeper cell do?
Regulated tumur growth: monitors and controlls cell divison and death. Prevents mutation accumulation
name a gate keeper gene
what does caretakers do?
they improve genomic stability
control the surrounding stromal enviroment