Genetic and pathobio of disease Flashcards Preview

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Flashcards in Genetic and pathobio of disease Deck (34):
1

application of genetic knowledge (3)

1. confirmation of exact diagnosis and counselling
2.cancer prognosis and treatment
3. risk assessment in other family members

2

why are genetic important in peds

1. 2-3% born with congenital anomaly
2. leading cause of death in neonatal period

3

importance of genetics in adults

5% of under 25 dev. illness with genetic component
- 67% chance if consider CV and cancer

4

what is spectrum of genetic influence

entirely genetic to entirely environmental

5

when do different disease types show up

chromosomal - before birth
single gene - childhood
multifactorial - later in life

6

what are chromosomes

physically separate strand of DNA

7

what are human chromosomes

23 + a sex

8

def. karytype

lab technique that produces picture of chromosomes

9

def. aneuploidy

abnormal number of chromos

10

2 types of aneuploidy

1. consitiutioknsal - every cell
2. somatic - only in some cells - cancer

11

what is chromosome structure

short (p) arm and long (q) arm separated by centromere

12

what are other chromo imbalances

micro deletions and duplications - can't see on karyotype

13

how to see micro

flourescence in situ (FISH)

14

what is FISH

use a probe with are looking for to flouresce that region

15

what is chromo microarray

like doing hundreds of FISH at once

16

def. proteome

constellation of all proteins in a cell

17

what is average gene size

3000 nucleotides

18

what is actual coded portion of gene

exons

19

what is central dogma

DNA>RNA>protein

20

3 ways a single gene defect can be inherited

1. autosomal dominant
2. recessive
3. x-linked - affects male preferentially

21

look at the genograms

do it

22

def. mutation

1. perm. change in the DNA sequence of a gene
- may be single nucleotide to large sequence

23

2 types of mutaitons

1. germline - from parents
2. somatic - aquired

24

3 ways mutations can happen

1. point mutations
2. insertion mutations
3. deletions

25

poss. results of point

silent, missense, nonsense (stop)

26

def. polymorphism

genetic changes that are common in the pop. (>1%)

27

what is common form of polymorphism

SNP - single nucleotides

28

def. locus

specific location on a chromosome - usually refers to a specific gene

29

def. allele

alternate forms of a gene

30

how do mutations lead to disease

usually with gain or loss of function

31

what is loss of function

- most genetic disease
- proteins have less or no function
- most reccesive mutations

32

what is gain of function

- proteins with new or abnormal function
- typically autosomal dominant

33

example of loss of function and gain of function

loss - CF - loss of CFTR transporter - mucous
gain - achondroplasia - fibroblast growth facotr gene - increased chondorcyte inhibition

34

4 approaches to pathobiol of disease and genetics

1. multifactorial or genetic
2. chromosomal
3. molecular
4. other

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