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Titolo:
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families
Autore:
Bjursell, C; Erlandson, A; Nordling, M; Nilsson, S; Wahlstrom, J; Stibler, H; Kristiansson, B; Martinsson, T;
Indirizzi:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Sahlgrensks Univ Hosp E Gothenburg Sweden S-41685 685 Gothenburg, Sweden Chalmers Univ Technol, S-41296 Gothenburg, Sweden Chalmers Univ Technol Gothenburg Sweden S-41296 41296 Gothenburg, Sweden Karolinska Hosp, Dept Neurol, S-10401 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-10401 urol, S-10401 Stockholm, Sweden Sahlgrensks Univ Hosp E, Dept Pediat, S-41685 Gothenburg, Sweden Sahlgrensks Univ Hosp E Gothenburg Sweden S-41685 685 Gothenburg, Sweden
Titolo Testata:
HUMAN MUTATION
fascicolo: 5, volume: 16, anno: 2000,
pagine: 395 - 400
SICI:
1059-7794(2000)16:5<395:PMSI1N>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; LINKAGE DISEQUILIBRIUM; I CDG1; GENE; DISORDERS;
Keywords:
CDG; IA; PMM2; mutation screening; prenatal diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Martinsson, T Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Sahlgrensks Univ Hosp E Gothenburg Sweden S-41685 , Sweden
Citazione:
C. Bjursell et al., "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families", HUM MUTAT, 16(5), 2000, pp. 395-400

Abstract

Carbohydrate-deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive dis ease characterized clinically by severe involvement of the central and peripheral nervous system, and biochemically by complex defects in carbohydrate residues in a number of serum glycoproteins, CDG LA is caused by mutations in the PMM2 gene located in chromosome region 16p13, In this study, 61 CDG type IA patients (122 chromosomes) mere screened for mutations in the PMM2 gene using a combination of SSCP and sequence analysis. More than 95% of the mutations could be detected, All of them were missensemutations. Mutations 422G>A and 357C>A were strikingly more common in the material and comprised 58% of mutations detected. Of the 20 mutations found, 10 were not reported previously. Seven mutations, e.g. 26G>A (five alleles) and 548T>C (seven alleles), were found only in Scandinavian families. The most common genotype was 357C>A/422C>A (36%). Three patients were homozygous, 357C>A/357C>A (two cases), and 548T>C/548T>C (one case). No patients homozygous for the most common mutation 422G>A were detected. The different mutations were clustered e.g,, in that most were located in exon 5 (five) and exon 8 (six), while no mutation was detected in exon 2, When the frequencies of each mutation were included, exon 5 comprised 61% (65 chromosomes) of the mutations; in Scandinavian patients the frequency of these mutationswas 72%. Thus, analysis of exon five in these patients enables both reliable and time-saving first screening in prenatal diagnostic cases. This couldbe followed by a second step of additional strategies for the detection ofother mutations. Hum Mutat 16:395-400, 2000, (C) 2000 Wiley-Liss, Inc.

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Documento generato il 26/11/20 alle ore 20:22:16