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Flashcards in genetics in sudden death Deck (40)
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1

what is penetrance

a measure if you have the mutation how likely you will get the disease

2

hat are mendelian disorders

they are your aut dom rec and x linked conditions
a high penetrance disease caused by a single gene mutation

3

if yu have a genetic condition that is high penetrance want is it likely to be

mendelian in orgin

4

what is the main benefit to ngs

you can sequence a large number of genes

5

once you have done ngs to work out the mutation in the individual what is the next step

use central dogma to work out what effect this has on the amino acids and therefire the function of the gene

6

once you found a mutation how do yu decide if its causative

is it in the right gene to cause the phenotype
has it been named as a polymprphism before
does it cause a bad mutation type likely to cause disease

7

what types of mutations in genes are likely to be dissease causative

prem stop codon
frameshift
missense
exon related

8

what is the part of the dna that we want to be looking in for the mutations causing disease

the exons

9

what percentage of your dna is actually exon

1-2%

10

can we selectively just sequence the exon part of the dna

yes and its cheaper

11

if you have a mutation in the promotor part of a gene is it likely to be disease causing

no

12

if you have a mutation at the beginning of an intron in a gene wht issues is it likely to cause

change to splice sequence
causes a splicing eror

13

if you do have a mutation in an intron where is it likely to be

usually 1-2 bases in

14

what are the types of mutations a mutation in a gene exon can cause and are they normally significant

yes normally significant
can change amino acid sequence
can create stop codon
can cause frameshift

15

a mutation in the exon of a gene always has an effect

false

16

if when describing a mutation it has :p in it what does that mean

that the mutation in in the peptide

17

what does SMAD4:p.Met157THr mean

the methiodine in peptide sequence of the sm gene as position 157 has been changed to threonine

18

when describing mutations we will say what position they are if in a peptide but what is position one that you are counting from

its the first amino acid of that peptide sequence

19

if after the position number in a peptide sequence mutation tere is an astrix what does that mean

that the amino acid that it used to be has been mutated to a stop codon

20

if when describing a mutation the description has :c. in it what deos that mean

the mutation in in the mature mrna

21

how wuld we describe mutation in mmature mrna

SMAD4:c.471A>T
gene: ature mrna.one amne acid chaged to another

22

what is mature mrna lacking

introns

23

why in genetic conditions is the phenotype important

because it tells us what genes are relevant and that we should be looking in for mutations

24

is there a genetic link to an aortic dissection

yes and not even multifactorially you get aut dom links

25

is it one gene that can cause aortic dissectin

no ther are a multitude

26

if you have a condition like aortic dissection where you think its genetically caused but there are a number of genes that could have caused it what genetic testing do you do

ngs
use pcr and sequencing wen just looking fro a specific mutation

27

what are your genetic conditions that are linked to genetic cause of aortic aneurysm

marfans
loeys dietz syndome

28

what gene is effected in marfans syndrome

fibrilin

29

apart from loeys diets and marfans what other mutations increase risk of aortic dissection

tgfb2 (vasc issues and dissection)
smad 4 ( dissection and cancer)

30

if someone presents with a thoracic aortic aneurysm would you do genetic testing

it can be non genetic and there are so many genes that can cause it you would only test for it if you suspected a certain clinical condition due to phenotype that you could do genetic testing for