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Titolo:
Denaturing high-performance liquid chromatography is a suitable method forPMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients
Autore:
Erlandson, A; Stibler, H; Kristiansson, B; Wahlstrom, J; Martinsson, T;
Indirizzi:
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Gothenburg Univ Gothenburg Sweden S-41685 et, S-41685 Gothenburg, Sweden Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Pediat, Gothenburg, Sweden Gothenburg Univ Gothenburg Sweden sp E, Dept Pediat, Gothenburg, Sweden Karolinska Hosp, Dept Neurol, S-10401 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-10401 urol, S-10401 Stockholm, Sweden
Titolo Testata:
GENETIC TESTING
fascicolo: 3, volume: 4, anno: 2000,
pagine: 293 - 297
SICI:
1090-6576(200023)4:3<293:DHLCIA>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
9
Recensione:
Indirizzi per estratti:
Indirizzo: Martinsson, T Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Gothenburg Univ Gothenburg Sweden S-41685 thenburg, Sweden
Citazione:
A. Erlandson et al., "Denaturing high-performance liquid chromatography is a suitable method forPMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients", GENET TEST, 4(3), 2000, pp. 293-297

Abstract

The phosphomannomutase 2 gene (PMM2; MIM 601785) has been identified as the carbohydrate-deficient glycoprotein syndrome type 1A gene (CDGS type 1A; MIM 212065), The gene spans 8 exons and 741 bp of coding DNA, Previously, we have identified 20 different mutations in the PMM2 gene using mutation screening with single-stranded conformation polymorphism (SSCP) and sequencing of DNA from 61 CDGS type 1A patients. Because eight of these could not bedetected by SSCP, we were not satisfied with the sensitivity of the mutation detection technique used. Thus, we wanted to investigate if denaturing high-performance liquid chromatography (DHPLC) was a more suitable mutation screening method for PMM2. DHPLC was set up for PMM2 by optimizing eight different PCR fragments, one for each exon, The mutation detection was optimized empirically with PCR fragments from controls. First, control samples were run at a universal gradient and after modification and shortening of thegradient, also run at 10 different temperatures, 50-70 degreesC with 2-degree intervals, to enable setting of the temperature with the highest resolution. Then, PCR products with known mutations from the previous study were analyzed, and the results were compared to the control chromatograms for aberrations. We detected 19/20 mutations with DHPLC, and several mutations not detected by earlier screening techniques were readily detected by DHPLC. We conclude that DHPLC is a suitable detection technique for a rapid and reliable first scan of CDGS type 1A patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 10:27:02