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Flashcards in Week 2 Deck (77)
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1

complex inherited disorder?

Something that has been inherited but is not following mendalians rules

2

polygenic disease?

A disease caused by a number of genes/alleles

3

multifactorial disease?

Disease caused by a number of factors including both enviromental and genetic

4

What is cluster headache?

very sharp headache that is usually only one one side of the brain and last for a few weeks

5

What is Lambdas s ?

The relative risk of someone inheriting a disease that is already in there family in relation to the general population?

6

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

7

Is blood pressure a mendalian inheritance?

No it is affected by a number of factors

8

Give examples of congenitial malformation

cleft lip/palate, congenital hip dislocation, congenital heart defects, neural tube defects, pyloric stenosis, talipes

9

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%

10

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

11

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

12

What is linkeage anaylsis used for?

mendalian inheritance

13

Does SNPs usually cause a disease?

No they are usually harmless

14

What is the common age too get AD?

Over 40

15

What are the common symptoms of AD?

Memory loss, brain damage and inability to cope

16

What is the cause of AD neurologically?

shrinkage of brain, tangles of b-amyloid protein in nerve fibres of hippocampus

17

what is the relative risk of second sibiling having AD ?

ls is 3 to 10

18

What is the genetic cause of early onset AD?

is caused by Genetic heterogeneity

19

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

20

Having the APOE4/E4 reduces the onset of AD to when

from 84 yrs old too 68

21

what is the leading causeirreversible central visual dysfunction?

AGe related macular degeneration

22

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)

23

Examples of polygenic disease

schizophrenia, type II diabetes, Alzheimers and age-related macular dystrophy

24

Can one mutation cause cancer?

Usually no need a multiple of mutations to cause cancer unless you have already inherited mutated genes

25

What factors affect the pentrance of someone having cancer?

genetic variation and enviromental factors can affect the penetrance of a population

26

what does a gate keeper cell do?

Regulated tumur growth: monitors and controlls cell divison and death. Prevents mutation accumulation

27

name a gate keeper gene

TP53

28

what does caretakers do?

they improve genomic stability

29

landscape

control the surrounding stromal enviroment

30

what is the supporting cell that has the mutation in certain colonel cancers?

stromal cells surrounding the epithelial cells