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Titolo:
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia
Autore:
Romano, V; Lio, D; Cali, F; Scola, L; Leggio, L; DAnna, C; De Leo, G; Salerno, A;
Indirizzi:
Univ Palermo, Dipartimento Biopatol & Metodol Biomed, I-90133 Palermo, Italy Univ Palermo Palermo Italy I-90133 etodol Biomed, I-90133 Palermo, Italy IRCCS, OASI, Ist Ric Ritardo Mentale & Involuzione Cerebrale, Troina, EN, Italy IRCCS Troina EN Italy Mentale & Involuzione Cerebrale, Troina, EN, Italy
Titolo Testata:
MOLECULAR AND CELLULAR PROBES
fascicolo: 1, volume: 15, anno: 2001,
pagine: 13 - 19
SICI:
0890-8508(200102)15:1<13:AMSFPG>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
PHENYLALANINE-HYDROXYLASE GENE; MUTATION ANALYSIS; ILLEGITIMATE TRANSCRIPTION; CHEMICAL CLEAVAGE; POINT MUTATIONS; PKU MUTATIONS; PHENYLKETONURIA; AMPLIFICATION; POLYMORPHISMS; DEFICIENCY;
Keywords:
RDB; IVS10NT546; Y414C; R261Q; A300S; PAH; PKU;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Romano, V Univ Palermo, Dipartimento Biopatol & Metodol Biomed, Via Divisi83, I-90133 Palermo, Italy Univ Palermo Via Divisi 83 Palermo Italy I-90133 Palermo, Italy
Citazione:
V. Romano et al., "A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia", MOL CELL PR, 15(1), 2001, pp. 13-19

Abstract

The elucidation of the molecular basis of hyperphenylalaninemia in variousworld populations (PKU Consortium Database: http://www.mcgill.ca/pahdb/) has revealed a remarkable molecular heterogeneity at the locus encoding for phenylalanine hydroxylase. As a consequence, genotyping of HPA patients hasprompted the establishment of an impressive number of mutation detection protocols. In spite of the large variety of methods proposed so far, no comprehensive strategy has been yet developed for the detection of PAH gene mutations. Therefore, new approaches, combining the advantages of individual methods are required, especially in populations with a high number of PAH gene mutations. In this study, we propose the use of Reverse Dot Blot Analysis within a general mutation detection protocol to simplify the genotyping of hyperphenylalaninemics in the very heterogeneous population of Sicily (Italy). (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/01/20 alle ore 14:46:12