Glycogen storage disease type Ia: molecular study in Brazilian patients

dc.creatorReis, FD
dc.creatorCaldas, HC
dc.creatorNorato, DYJ
dc.creatorSchwartz, IVD
dc.creatorGiugliani, R
dc.creatorBurin, MG
dc.creatorSartorato, EL
dc.date2001
dc.date2014-11-19T22:45:06Z
dc.date2015-11-26T18:06:44Z
dc.date2014-11-19T22:45:06Z
dc.date2015-11-26T18:06:44Z
dc.date.accessioned2018-03-29T00:48:54Z
dc.date.available2018-03-29T00:48:54Z
dc.identifierJournal Of Human Genetics. Springer-verlag Tokyo, v. 46, n. 3, n. 146, n. 149, 2001.
dc.identifier1434-5161
dc.identifierWOS:000167591800008
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/68123
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/68123
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/68123
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1293426
dc.descriptionMutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSDIa). This disease is characterized by growth retardation, hepatomegaly, hypoglycemia, hyperlipidemia, and lactic acidosis. In this study, we report mutations in the G6Pase gene in 8 of 25 Brazilian patients with clinical symptoms of GSDIa. Five previously described mutations (R83C, Q347X, V338F, D38V, and G68R) were detected. The two most common mutations identified were R83C and Q347X, accounting for 8 of 14 (57.14%) mutant alleles. A 1176 single-nucleotide polymorphism and two intronic mutations (IVS3-58T>A and IVS4+10G>A) were also analyzed. We used the minigene strategy in order to verify the effect of these intronic mutations on the splicing mechanism. This study emphasizes that molecular genetic analysis is a reliable and convenient alternative to the assay of enzyme activity in a fresh liver biopsy specimen for dianosing GSDIa.
dc.description46
dc.description3
dc.description146
dc.description149
dc.languageen
dc.publisherSpringer-verlag Tokyo
dc.publisherTokyo
dc.publisherJapão
dc.relationJournal Of Human Genetics
dc.relationJ. Hum. Genet.
dc.rightsfechado
dc.rightshttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.sourceWeb of Science
dc.subjectglycogen storage disease type Ia
dc.subjectglucose-6-phosphatase
dc.subjectmutation
dc.subjectDNA-based diagnosis
dc.subjectBrazilian
dc.subjectGlucose-6-phosphatase Gene
dc.subject1a
dc.subjectMutation
dc.titleGlycogen storage disease type Ia: molecular study in Brazilian patients
dc.typeArtículos de revistas


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