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.