L14 - diagnosing genetic diseease 2 Flashcards Preview

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Flashcards in L14 - diagnosing genetic diseease 2 Deck (15):
1

how much of genome is cnv

12% (more than snp)

2

how many cnv per ind

20

3

estimate cna and rare disease

8-15% of cause rare disease
underlie gen div and suseptibility of complex disease

4

what detection mech is the gold standard for confirmation of specifc mut

sanger based cycle seq

5

what are the adv of sanger based cycle seq

easy
cheap
targetedd mut and gene are fully categorised

6

what are the dsadv of sanger based cycle seq

laborous for big genes
msises whole exon de and dup
no genome wide coverage

7

how are mut detected in known conditions

- check if predefined nt altered = sanger/MLPA/ARMS
- scan whole genome

8

wha is ARMS (amplification refractory mut system ) used to detect

cf mut /screens

9

adv of ARMS

can distinguish homo/hetero for all mut
reliable
simple protocol
multiple mut can be detect in sgl analysis

10

what do whole genome seq cover

cover 95-98% of genome
inc high GC content and repeat regions / centromeres/telomeres

11

adv of whole genome seq

uniform genome cover
better determination of cnv/rearrangements
variatns in reg regions

12

adv of whole exome seq

focus on smaller amout of genome (2%) but this has 85% variatns of mendel disease
quicker
cheaper
easier to analyse as less data

13

what are the clinical features of charge syndrome

coloboma/heart malform/atresia of chonnae/retard growth and dev

14

describe the genetic studies of charge syndrome

normal karyotype
use aCGH - found 8q12 del of 17 genes/FISH verified/de novo occurence

15

what the disease mech of charge syndrome found to be through sanger seq

the del results in truncated/non-functional CHD7 or 4disrupts chromatin remocel and regen of gene expr
chnage in gene expr during emb dev - charge clinical features
show not micro del but monogenic