Geographical distribution of phenylalanine hydroxylase alleles in Sicily

V. Romano, P. Bosco, V. Chiavetta, G. Fasulo, L. Pitronaci, F. Mollica, C. Meli, M. Giovannini, E. Riva, B. Giuffre, R. Eisensmith, S. L C Woo, C. Romano, A. Ponzone, I. Dianzani, C. Camaschella, C. Di Pietro, N. Ceratto

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

One hundred and eighty-four normal and mutant chromosomes from 46 phenylketonuria (PKU) families were analyzed to determine the prevalent haplotypes and mutations in the phenylalanine hydroxylase (PAH) gene in the Sicilian population. Of the 22 screened mutations only 10 were found in PKU patients. Overall 40% of the mutant alleles have been characterized in Sicily. An interesting result concerns the finding that the geographical distribution of haplotype 6 and associated IVS10,nt546 mutation is confined to patients originating from the middle-eastern area of Sicily. Altogether, the results demonstrate a remarkable heterogeneity of PAH alleles, probably resulting from the past ethnical history of Sicily.

Original languageEnglish
Pages (from-to)83-91
Number of pages9
JournalDevelopmental Brain Dysfunction
Volume6
Issue number1-3
Publication statusPublished - 1993

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Phenylalanine Hydroxylase
Sicily
Phenylketonurias
Alleles
Haplotypes
Mutation
Chromosomes
Population
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Romano, V., Bosco, P., Chiavetta, V., Fasulo, G., Pitronaci, L., Mollica, F., ... Ceratto, N. (1993). Geographical distribution of phenylalanine hydroxylase alleles in Sicily. Developmental Brain Dysfunction, 6(1-3), 83-91.

Geographical distribution of phenylalanine hydroxylase alleles in Sicily. / Romano, V.; Bosco, P.; Chiavetta, V.; Fasulo, G.; Pitronaci, L.; Mollica, F.; Meli, C.; Giovannini, M.; Riva, E.; Giuffre, B.; Eisensmith, R.; Woo, S. L C; Romano, C.; Ponzone, A.; Dianzani, I.; Camaschella, C.; Di Pietro, C.; Ceratto, N.

In: Developmental Brain Dysfunction, Vol. 6, No. 1-3, 1993, p. 83-91.

Research output: Contribution to journalArticle

Romano, V, Bosco, P, Chiavetta, V, Fasulo, G, Pitronaci, L, Mollica, F, Meli, C, Giovannini, M, Riva, E, Giuffre, B, Eisensmith, R, Woo, SLC, Romano, C, Ponzone, A, Dianzani, I, Camaschella, C, Di Pietro, C & Ceratto, N 1993, 'Geographical distribution of phenylalanine hydroxylase alleles in Sicily', Developmental Brain Dysfunction, vol. 6, no. 1-3, pp. 83-91.
Romano V, Bosco P, Chiavetta V, Fasulo G, Pitronaci L, Mollica F et al. Geographical distribution of phenylalanine hydroxylase alleles in Sicily. Developmental Brain Dysfunction. 1993;6(1-3):83-91.
Romano, V. ; Bosco, P. ; Chiavetta, V. ; Fasulo, G. ; Pitronaci, L. ; Mollica, F. ; Meli, C. ; Giovannini, M. ; Riva, E. ; Giuffre, B. ; Eisensmith, R. ; Woo, S. L C ; Romano, C. ; Ponzone, A. ; Dianzani, I. ; Camaschella, C. ; Di Pietro, C. ; Ceratto, N. / Geographical distribution of phenylalanine hydroxylase alleles in Sicily. In: Developmental Brain Dysfunction. 1993 ; Vol. 6, No. 1-3. pp. 83-91.
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AU - Bosco, P.

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AU - Fasulo, G.

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AU - Meli, C.

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AU - Woo, S. L C

AU - Romano, C.

AU - Ponzone, A.

AU - Dianzani, I.

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AU - Di Pietro, C.

AU - Ceratto, N.

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