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Titolo:
DHPLC analysis of the MECP2 gene in Italian Rett patients
Autore:
Nicolao, P; Carella, M; Giometto, B; Tavolato, B; Cattin, R; Giovannucci-Uzielli, ML; Vacca, M; Della Regione, F; Piva, S; Bortoluzzi, S; Gasparini, P;
Indirizzi:
Univ Padua, Neurol Clin 2, Dept Neurol & Psychiat Sci, I-35137 Padua, Italy Univ Padua Padua Italy I-35137 urol & Psychiat Sci, I-35137 Padua, Italy BIRD ONLUS Fdn, Vicenza, Italy BIRD ONLUS Fdn Vicenza ItalyBIRD ONLUS Fdn, Vicenza, Italy Univ Florence, Dept Pediat, Genet & Mol Med Unit, Florence, Italy Univ Florence Florence Italy iat, Genet & Mol Med Unit, Florence, Italy CNR, Int Inst Genet & Biophys, I-80125 Naples, Italy CNR Naples Italy I-80125 Int Inst Genet & Biophys, I-80125 Naples, Italy Univ Padua, Dept Biol, I-35137 Padua, Italy Univ Padua Padua Italy I-35137 iv Padua, Dept Biol, I-35137 Padua, Italy CSS, IRCCS, Med Genet Unit, San Giovanni Rotondo, Italy CSS San Giovanni Rotondo Italy Genet Unit, San Giovanni Rotondo, Italy TIGEM, Naples, Italy TIGEM Naples ItalyTIGEM, Naples, Italy
Titolo Testata:
HUMAN MUTATION
fascicolo: 2, volume: 18, anno: 2001,
pagine: 132 - 140
SICI:
1059-7794(2001)18:2<132:DAOTMG>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN-2; X-LINKED INHERITANCE; HISTONE DEACETYLASE; SEQUENCE-ANALYSIS; EXCLUSION MAP; MUTATION TYPE; POLYMORPHISMS; REGION; DNA; SUGGESTS;
Keywords:
Rett Syndrome; RTT; MECP2; mutation screening; DHPLC; Italian;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Nicolao, P Univ Padua, Neurol Clin 2, Dept Neurol & Psychiat Sci, Via Vendramini 7, I-35137 Padua, Italy Univ Padua Via Vendramini 7 Padua Italy I-35137 7 Padua, Italy
Citazione:
P. Nicolao et al., "DHPLC analysis of the MECP2 gene in Italian Rett patients", HUM MUTAT, 18(2), 2001, pp. 132-140

Abstract

Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein2 gene (MECP2) have been identified in roughly 75% of classical Rett girls. The vast majority of Rett cases (99%) are sporadic in origin, and are dueto de novo mutations. We collected DNA samples from 50 Italian classical Rett girls, and screened the MECP2 coding region for mutations by denaturinghigh-performance liquid chromatography (DHPLC) and subsequent direct sequencing. DHPLC is a recently developed method for mutation screening which identifies heteroduplexes formed in DNA samples containing mismatches betweenwild type and mutant DNA strands, combining high sensitivity, reduced costper run, and high throughput. In our series, 19 different de novo MECP2 mutations, eight of which were previously unreported, were found in 35 out of50 Rett girls (70%). Seven recurrent mutations were characterized in a total of 22 unrelated cases. Initial DHPLC screening allowed the identification of 17 out of 19 different mutations (90%); after optimal conditions were established, this figure increased to 100%, with all recurrent MECP2 mutations generating a characteristic chromatographic profile. Detailed clinical data were available for 27 out of 35 mutation carrying Rett girls. Milder disease was detectable in patients carrying nonsense mutation as compared topatients carrying missense mutations, although this difference was not statistically significant (P = 0.077). Hum Mutat 18.132-140, 2001. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 26/01/20 alle ore 17:14:56