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By NA Disordini genomici Lezione 14. By NA DUPLICAZIONI SEGMENTALI LCR PMP22 distal CMT1A-REP proximal CMT1A-REP 24Kb LCR17pA 383Kb LCR17pE ~31Kb distal.

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Presentazione sul tema: "By NA Disordini genomici Lezione 14. By NA DUPLICAZIONI SEGMENTALI LCR PMP22 distal CMT1A-REP proximal CMT1A-REP 24Kb LCR17pA 383Kb LCR17pE ~31Kb distal."— Transcript della presentazione:

1 By NA Disordini genomici Lezione 14

2 By NA DUPLICAZIONI SEGMENTALI LCR PMP22 distal CMT1A-REP proximal CMT1A-REP 24Kb LCR17pA 383Kb LCR17pE ~31Kb distal SMS-REP LCR17pF ~33Kb middle SMS-REP proximal SMS-REP LCR17pB 191Kb ~200Kb LCR17pC 91Kb LCR17pD 191Kb LCR17pG ~31Kb CEN 7,4 Mb totale LCR 1,7 Mb (23%)

3 By NA DUPLICAZIONI SEGMENTALI LCR C AB C BA BAC cen tel ELN A B C AB C BAC cen tel cromosoma invertito cromosoma deleto C AB C BA BAC cen tel Inversione benigna nel 28% dei genitori crom.7 7q11.23

4 By NA DUPLICAZIONI SEGMENTALI LCR Cen F8B F8 C F8A CpG tel F8A F8B F8 C tel F8A CpG Cen F8A

5 By NA Disordini genomici P.Stankiewicz and J.R.Lupski Genome architecture, rearrangements and genomic disorders TRENDS in Genetics Vol. 18: 74-82, 2002 Banter syndrome type III 1p36 Gaucher disease1q21 Fam. juv. nephronophthisis2q13 Fascioscapulohumeral muscular dystrophy4q35 Spinal muscular atrophy5q13.2 Cong adrenal hyperplasia (21 hydroxylase def.)6p21.3 Glucocorticoid-remediable aldosteronism (GRA) 8q21 Beta-thalassemia11p15.5 alfa-thalassemia16p13.3 Polycystic kidney disease 116p13.3 Charcot-Marie-Tooth (CMT1A)17p12 Her. neur. with liability to pressure palsies (HNPP) 17p12 Neurofibromatosis type 1 (NFl)17q11.2 Pituitary dwarfism17q23.3 CYP2D6 pharmacogenetic trait22q13.1 IchthyosisXp22.32 Red-green color blindnessXq28 Incontinentia pigmenti Xq28 Hemophilia AXq28 Emery-Dreifuss musc. dystr.Xq28 Hunter syndromeXq28

6 By NA

7

8 SD (in omozigosi) CNV Assenza di dati per questioni tecniche

9 By NA DNA da testare

10 By NA DNA da testare

11 By NA

12

13

14 - comuni: 66% (79.8Mb) comparazione uomo-scimpanze' - umano-specifiche: 33% (26.5Mb) - scimpanze'-specifiche (11.4Mb) Duplicazioni segmentali

15 By NA Nature 453:56-64 (2008). Nature 444: (2006). Differenza media fra 2 individui: circa bp

16 By NA

17 Il significato?

18 By NA plasticity = variability = evolution perfezione = nessuna prospettiva evolutiva

19 By NA fixed CNV (SD) CNV

20 By NA fixed CNV (SD) CNV after meiosis before checkpoint

21 By NA … Finally, the high level of instability at the alpha-globin locus contrasts with the rarity in most populations of chromosomes carrying duplications or deletions, pointing to strong selective constraints that maintain alpha-globin gene copy number in human populations. PNAS 104: (2007).

22 By NA Li-Fraumeni syndrome is an autosomal dominantly inherited disorder characterized by a strikingly increased risk of early-onset breast cancer, sarcomas, brain tumors and other neoplasms in individuals harboring germline TP53 mutations. PNAS in press

23 By NA

24 Science 320: , 2008

25 By NA Am J Hum Genet 81: , 2007 Nature Genet 40: , 2008.

26 By NA PNAS 105: , 2007

27 By NA Variabilita ricchezza per la specie Variabilita problemi per i singoli

28 By NA E la logica :le esigenze dei molti contano di piu di quelle dei pochi o di uno Mr.Spock: Star Trek : Lira di Khan


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