Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
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Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. / Santer, R; Rischewski, J; Block, G; Kinner, M; Wendel, U; Schaub, J; Schneppenheim, R.
in: HUM MUTAT, Jahrgang 16, Nr. 2, 2, 08.2000, S. 177.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
AU - Santer, R
AU - Rischewski, J
AU - Block, G
AU - Kinner, M
AU - Wendel, U
AU - Schaub, J
AU - Schneppenheim, R
N1 - Copyright 2000 Wiley-Liss, Inc.
PY - 2000/8
Y1 - 2000/8
N2 - We investigated the molecular basis of glycogen storage disease type 1 non-A (GSD1 non-A) in 21patients. In addition to 8 novel mutations within the G6PT1 gene (c.250T>A, c.580G>A, c.627C>T, c.653-4delAG, c. 844C>A, c.1071A>C, c.1268G>A, c.1348G>A), we found a remarkably high prevalence of exon 8 mutations in German patients. The c.1211-2delCT mutation and the c.1184G>T mutation accounted for 32% and 29% of mutant chromosomes, respectively, supporting the hypothesis of a Middle European origin of these two mutations. Together with less common mutations, 79% of German GSD1 non-A patients were either homozygous or heterozygous for an exon 8 mutation. In addition to direct sequencing, these exon8 mutations could be detected by mutation-specific methods such as the detection of heteroduplex formation on polyacrylamide gel electrophoresis or by the amplification of DNA segments by allele-specific oligonucleotides. Furthermore, the use of denaturating high performance liquid chromatography (DHPLC) allowed a 100% detection and discrimination of all exon 8 mutations. In conclusion from these results, we recommend the use of either conventional or DHPLC screening as the initial non-invasive and efficient diagnostic procedure in patients with GSD1 non-A from populations with a similar distribution of mutations. Hum Mutat 16:177, 2000.
AB - We investigated the molecular basis of glycogen storage disease type 1 non-A (GSD1 non-A) in 21patients. In addition to 8 novel mutations within the G6PT1 gene (c.250T>A, c.580G>A, c.627C>T, c.653-4delAG, c. 844C>A, c.1071A>C, c.1268G>A, c.1348G>A), we found a remarkably high prevalence of exon 8 mutations in German patients. The c.1211-2delCT mutation and the c.1184G>T mutation accounted for 32% and 29% of mutant chromosomes, respectively, supporting the hypothesis of a Middle European origin of these two mutations. Together with less common mutations, 79% of German GSD1 non-A patients were either homozygous or heterozygous for an exon 8 mutation. In addition to direct sequencing, these exon8 mutations could be detected by mutation-specific methods such as the detection of heteroduplex formation on polyacrylamide gel electrophoresis or by the amplification of DNA segments by allele-specific oligonucleotides. Furthermore, the use of denaturating high performance liquid chromatography (DHPLC) allowed a 100% detection and discrimination of all exon 8 mutations. In conclusion from these results, we recommend the use of either conventional or DHPLC screening as the initial non-invasive and efficient diagnostic procedure in patients with GSD1 non-A from populations with a similar distribution of mutations. Hum Mutat 16:177, 2000.
KW - Antiporters
KW - Chromatography, High Pressure Liquid
KW - Croatia
KW - DNA Mutational Analysis
KW - Exons
KW - Germany
KW - Glycogen Storage Disease Type I
KW - Humans
KW - Monosaccharide Transport Proteins
KW - Mutation
KW - Nucleic Acid Denaturation
KW - Phosphotransferases
KW - Prevalence
KW - Sicily
U2 - 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8
DO - 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8
M3 - SCORING: Journal article
C2 - 10923042
VL - 16
SP - 177
JO - HUM MUTAT
JF - HUM MUTAT
SN - 1059-7794
IS - 2
M1 - 2
ER -