Cap.12 Mutazioni Genetiche
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description
Corso di genetica umana
Transcript of Cap.12 Mutazioni Genetiche
35.000 genes, HUMAN GENOME PROJECT
DNA EXTRACTION FROM WHOLE BLOOD
DNA cloning
DNA cloning
The hypopigmentation and macular/foveal hypoplasia
Hypopigmentation of the hair and eyelashes
Transillumination of the iris
• The red represents the coding region of the human tyrosinase polypeptide.
• The blue represents the signal peptide, the green represents the copper-binding regions and the yellow the transmembrane region.
• The white dots are cysteine residues conserved in all members of the tyrosinase-related protein family.
Human tyrosinase protein Human tyrosinase protein structure and mutation locationstructure and mutation location
MicrosatellitesMicrosatellites
La Fibrosi Cistica
• E’ una malattia autosomica recessiva• ha una frequenza 1/2500 nati• 1 persona su 25 è portatore sano
La terapia del futuro:La terapia del futuro:la terapia genicala terapia genica
New mutations in β globin geneEXON 1
C G G G G G G C T G C AT T
244 252
C G G G G G G C T G C A244 252
A
B
Figure 2. exon 1 sequence of a control (A) and patient 2 (B): Ht G244T/Ht C252T.
G G A G C C T G G G G A408
G G A G C C T G G G G AG A G C C T G G408
EXON 2
A
B
Figure 5. exon 2 sequence of a control (A) and patient 1 (B): Ht GAG408ins.
