Step Slides Based on Kaplan Videos

7/21/2019 Step Slides Based on Kaplan Videos

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Kaplan

Biochemistry



2ND video lecture

Triple nucleotide repeat diseases

Huntington’s

Fragile X

Myotonic dystrophy

Spinoular muscular atrophy

Freidriech’s !ta"ia















#enetic Testing





Southern Blot

This is the asis o$ %F&' (restriction $ragment length p)



'*%

Basis o$ genetic +ngerprinting



Normal ST%'’s can e $ound in spacer DN!

ST%'’s only cause pathologies ,hen they are $ound in genes



Beta Thalassemia

There is a splice mutation at intron -

Hence the splicesome doesn’t recogni.e intron - and thus intronisn’t removed



Dot lots

No electrophoresis

*annot di/erentiate on the asis o$ si.es o$ %N!



!utosomal dominant disease















Mitochondrial Disease

Most aeroic tissues 0 muscle and neurones







!crocentric chromosomes

-1 -

-3

2-

22



!lpha thalassemia

Most common cause y the uneven crossover et,eenhomologous chromosome



Microdeletions

*ri4du4chat 5illiams syndrome

!lpha thalassemia



*odon deletion

*ystic Firosis



Duchenne M D

Single nucleotide deletion



Turner’s syndrome

5hy you see on oards 4 only monosomy that can survive

4 isochromosome leading to turner’s syndrome

4 mosaicism (3 X6 7 X)



'*%

Basis o$ dot lot





8hler’s danlos and scurvy



#lut 2 transporter

Found in liver6 9idney6 eta cells



#lut transporter (.ero order9inetics)

Brain6 %B*s

Documents

Step Slides Based on Kaplan Videos