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Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

Published online by Cambridge University Press:  01 September 1997

S. RENDINE
Affiliation:
Dipartimento di Genetica, Biologia e Biochimica and Centro CNR-CIOS, Torino, Italy
F. CALAFELL
Affiliation:
Dipartimento di Genetica, Biologia e Biochimica and Centro CNR-CIOS, Torino, Italy
N. CAPPELLO
Affiliation:
Dipartimento di Genetica, Biologia e Biochimica and Centro CNR-CIOS, Torino, Italy
R. GAGLIARDINI
Affiliation:
Ospedale Dei Bambini ‘G. Salesi’, Ancona, Italy
G. CARAMIA
Affiliation:
Ospedale Dei Bambini ‘G. Salesi’, Ancona, Italy
N. RIGILLO
Affiliation:
Clinica Pediatrica, Università, Bari, Italy
M. SILVETTI
Affiliation:
Div. Pediatria, Ospedale, Cagliari, Italy
M. ZANDA
Affiliation:
Div. Pediatria, Ospedale, Cagliari, Italy
A. MIANO
Affiliation:
Centro Fibrosi Cistica, Osp. ‘M. Bufalini’, Cesena, Italy
F. BATTISTINI
Affiliation:
Centro Fibrosi Cistica, Osp. ‘M. Bufalini’, Cesena, Italy
L. MARIANELLI
Affiliation:
Ospedale ‘ Mayer’, Firenze, Italy
G. TACCETTI
Affiliation:
Ospedale ‘ Mayer’, Firenze, Italy
M. C. DIANA
Affiliation:
Clinica Pediatrica Istituto ‘G. Gaslini’, , Genova, Italy
L. ROMANO
Affiliation:
Clinica Pediatrica Istituto ‘G. Gaslini’, , Genova, Italy
C. ROMANO
Affiliation:
Clinica Pediatrica Istituto ‘G. Gaslini’, , Genova, Italy
A. GIUNTA
Affiliation:
Centro Regionale Fibrosi Cistica, II° Clinica Pediatrica, Università, Milano, Italy
R. PADOAN
Affiliation:
Centro Regionale Fibrosi Cistica, II° Clinica Pediatrica, Università, Milano, Italy
A. PIANAROLI
Affiliation:
Centro Regionale Fibrosi Cistica, II° Clinica Pediatrica, Università, Milano, Italy
V. RAIA
Affiliation:
Dipartimento Pediatria, Università Federico II, Napoli, Italy
G. DE RITIS
Affiliation:
Dipartimento Pediatria, Università Federico II, Napoli, Italy
A. BATTISTINI
Affiliation:
Clinica Pediatrica, Università, Parma, Italy
G. GRZINCICH
Affiliation:
Clinica Pediatrica, Università, Parma, Italy
L. JAPICHINO
Affiliation:
Ospedale Dei Bambini ‘Di Cristina’, Palermo, Italy
F. PARDO
Affiliation:
Ospedale Dei Bambini ‘Di Cristina’, Palermo, Italy
M. ANTONELLI
Affiliation:
Centro Fibrosi Cistica, Regione Lazio, Ist. Clinica Pediatrica, Università ‘La Sapienza’, Roma, Italy
S. QUATTRUCCI
Affiliation:
Centro Fibrosi Cistica, Regione Lazio, Ist. Clinica Pediatrica, Università ‘La Sapienza’, Roma, Italy
V. LUCIDI
Affiliation:
Ospedale ‘Bambin Gesù’, Roma, Italy
M. CASTRO
Affiliation:
Ospedale ‘Bambin Gesù’, Roma, Italy
B. SANTINI
Affiliation:
Ospedale ‘Regina Margherita’, Clinica Pediatrica, Università, Torino, Italy
M. CASTELLO
Affiliation:
Ospedale ‘Regina Margherita’, Clinica Pediatrica, Università, Torino, Italy
G. GUANTI
Affiliation:
Ist. Genetica Medica, Università, Bari, Italy
G. B. LEONI
Affiliation:
Ist. Clinica e Biologia Età Evolutiva, Università, Cagliari, Italy
A. CAO
Affiliation:
Ist. Clinica e Biologia Età Evolutiva, Università, Cagliari, Italy
C. TOFFOLI
Affiliation:
Div. Pediatrica, Arcispedale ‘S. Anna’, Ferrara, Italy
E. LUCCI
Affiliation:
Div. Pediatrica, Arcispedale ‘S. Anna’, Ferrara, Italy
C. VULLO
Affiliation:
Div. Pediatrica, Arcispedale ‘S. Anna’, Ferrara, Italy
F. TORRICELLI
Affiliation:
U.O. Citogenetica e Genetica, Azienda Ospedale Careggi, Firenze, Italy
F. SBERNINI
Affiliation:
U.O. Citogenetica e Genetica, Azienda Ospedale Careggi, Firenze, Italy
G. ROMEO
Affiliation:
Lab. Genetica Molecolare, Ist. ‘G. Gaslini’, Genova, Italy
P. RONCHETTO
Affiliation:
Lab. Genetica Molecolare, Ist. ‘G. Gaslini’, Genova, Italy
M. SEIA
Affiliation:
Laboratorio, Istituti Clinici Perfezionamento, Università, Milano, Italy
A. ROSSI
Affiliation:
Laboratorio, Istituti Clinici Perfezionamento, Università, Milano, Italy
M. FERRARI
Affiliation:
I.R.C.C.S. Ospedale San Raffaele, Lab. Biologia Molecolare Clinica, Milano, Italy
L. CREMONESI
Affiliation:
I.R.C.C.S. Ospedale San Raffaele, Lab. Biologia Molecolare Clinica, Milano, Italy
F. SALVATORE
Affiliation:
G.E.I.N.G.E., Biotecnologie Avanzate e Dip. Biochimica e Biotecnologie Mediche, Università Federico II, Napoli, Italy
G. CASTALDO
Affiliation:
G.E.I.N.G.E., Biotecnologie Avanzate e Dip. Biochimica e Biotecnologie Mediche, Università Federico II, Napoli, Italy
E. D'ALCAMO
Affiliation:
Serv. Talassemie, Ospedale ‘V. Cervello’, Palermo, Italy
A. MAGGIO
Affiliation:
Serv. Talassemie, Ospedale ‘V. Cervello’, Palermo, Italy
F. SANGIUOLO
Affiliation:
Dip. Sanità Pubblica e Biologia Cellulare, Cattedra Genetica Umana, Università ‘Tor Vergata’, Roma, Italy
B. DALLAPICCOLA
Affiliation:
Dip. Sanità Pubblica e Biologia Cellulare, Cattedra Genetica Umana, Università ‘Tor Vergata’, Roma, Italy
P. MACERATESI
Affiliation:
Dip. Sanità Pubblica e Biologia Cellulare, Cattedra Genetica Umana, Università ‘Tor Vergata’, Roma, Italy
L. BISCEGLIA
Affiliation:
Serv. Gen. Med. IRCSS ‘Casa Sollievo dalla Sofferenza’, San Giovanni Rotondo, Foggia, Italy
P. GASPARINI
Affiliation:
Serv. Gen. Med. IRCSS ‘Casa Sollievo dalla Sofferenza’, San Giovanni Rotondo, Foggia, Italy
A. CARBONARA
Affiliation:
Dipartimento di Genetica, Biologia e Biochimica and Centro CNR-CIOS, Torino, Italy
A. BONIZZATO
Affiliation:
Lab. Genetica Molecolare, Centro Fibrosi Cistica, Osp. Maggiore, Verona, Italy
G. CABRINI
Affiliation:
Lab. Genetica Molecolare, Centro Fibrosi Cistica, Osp. Maggiore, Verona, Italy
C. BOMBIERI
Affiliation:
Ist. Biologia e Genetica, Università, Verona, Italy
P. F. PIGNATTI
Affiliation:
Ist. Biologia e Genetica, Università, Verona, Italy
G. BORGO
Affiliation:
Centro Fibrosi Cistica, Osp. Maggiore, Verona, Italy
C. CASTELLANI
Affiliation:
Centro Fibrosi Cistica, Osp. Maggiore, Verona, Italy
A. VILLANI
Affiliation:
Centro Fibrosi Cistica, Osp. Maggiore, Verona, Italy
C. ARDUINO
Affiliation:
Servizio Universitario Genetica Medica, Azienda S. Giovanni, Torino, Italy
D. SALVATORE
Affiliation:
Serv. Pediatria, Osp. Villa D'Agri, Potenza, Italy
G. MASTELLA
Affiliation:
Centro Fibrosi Cistica, Osp. Maggiore, Verona, Italy
A. PIAZZA
Affiliation:
Dipartimento di Genetica, Biologia e Biochimica and Centro CNR-CIOS, Torino, Italy
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Abstract

Earlier analysis of the Italian population showed patterns of genetic differentiation that were interpreted as being the result of population settlements going back to pre-Roman times. DNA disease mutations may be a powerful tool in further testing this hypothesis since the analysis of diseased individuals can detect variants too rare to be resolved in normal individuals. We present data on the relative frequencies of 60 cystic fibrosis (CF) mutations in Italy and the geographical distribution of the 12 most frequent CF mutations screened in 3492 CF chromosomes originating in 13 Italian regions. The 12 most frequent mutations characterize about 73% of the Italian CF chromosomes. The most common mutation, ΔF508, has an average frequency of 51%, followed by N1303K and G542X, both with average frequencies around 5%. Multivariate analyses show that the relative frequencies of CF mutations are heterogeneous among Italian regions, and that this heterogeneity is weakly correlated with the geographical pattern of non-DNA ‘classical’ genetic markers. The northern regions are well differentiated from the central-southern regions and within the former group the western and eastern regions are remarkably distinct. Moreover, Sardinia shows the presence of mutation T338I, which seems absent in any other European CF chromosome. The north-western regions of Italy, characterized by the mutation 1717-1G→A, were under Celtic influence, while the north-east regions, characterized by the mutations R1162X, 2183AA→G and 711­5G→A, were under the influence of the Venetic culture.

Type
Research Article
Copyright
© University College London 1997

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