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Article: Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography

TitlePrenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography
Authors
Issue Date2000
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 2000, v. 20 n. 9, p. 765-768 How to Cite?
AbstractGlycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenates. This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morbidity of fetal liver biopsy. Recently, the gene for GSD1b has been cloned and the prevalent mutations in different ethnic groups have been determined. In this study, prenatal molecular diagnosis was performed for a Chinese family in which a previous child was born homozygous for the G149E mutation. We detected genomic sequence variants by heteroduplex formation, followed by denaturing high performance liquid chromatography (DHPLC). With this method, post-PCR analysis was shortened to 7 min. In the case we analysed, PCR products amplified from the fetal DNA yielded a single peak in the chromatogram, indicating a homozygous state in the fetus. When wild-type PCR products were mixed with fetal PCR products, two peaks were observed, indicating that the fetus was homozygous for the parental (G149E) mutation. Sequencing results confirmed this diagnosis. As a result, the pregnancy was terminated and the diagnosis was confirmed on DNA analysis of the aborted fetus. We show here that DNA mutation analysis can be used in the prenatal diagnosis of GSD1b and that DHPLC promises to be a robust technique for this and other prenatal molecular diagnoses. (C) 2000 John Wiley and Sons, Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/148186
ISSN
2015 Impact Factor: 3.043
2015 SCImago Journal Rankings: 1.450
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorSin, SYen_US
dc.contributor.authorLau, ETen_US
dc.contributor.authorLam, YYen_US
dc.contributor.authorPoon, Pen_US
dc.contributor.authorTong, SFen_US
dc.date.accessioned2012-05-29T06:11:20Z-
dc.date.available2012-05-29T06:11:20Z-
dc.date.issued2000en_US
dc.identifier.citationPrenatal Diagnosis, 2000, v. 20 n. 9, p. 765-768en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/148186-
dc.description.abstractGlycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenates. This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morbidity of fetal liver biopsy. Recently, the gene for GSD1b has been cloned and the prevalent mutations in different ethnic groups have been determined. In this study, prenatal molecular diagnosis was performed for a Chinese family in which a previous child was born homozygous for the G149E mutation. We detected genomic sequence variants by heteroduplex formation, followed by denaturing high performance liquid chromatography (DHPLC). With this method, post-PCR analysis was shortened to 7 min. In the case we analysed, PCR products amplified from the fetal DNA yielded a single peak in the chromatogram, indicating a homozygous state in the fetus. When wild-type PCR products were mixed with fetal PCR products, two peaks were observed, indicating that the fetus was homozygous for the parental (G149E) mutation. Sequencing results confirmed this diagnosis. As a result, the pregnancy was terminated and the diagnosis was confirmed on DNA analysis of the aborted fetus. We show here that DNA mutation analysis can be used in the prenatal diagnosis of GSD1b and that DHPLC promises to be a robust technique for this and other prenatal molecular diagnoses. (C) 2000 John Wiley and Sons, Ltd.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.subject.meshAbortion, Eugenicen_US
dc.subject.meshAntiportersen_US
dc.subject.meshCells, Cultureden_US
dc.subject.meshChorionic Villi Samplingen_US
dc.subject.meshChromatography, High Pressure Liquiden_US
dc.subject.meshDna - Analysisen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Blooden_US
dc.subject.meshGlycogen Storage Disease Type I - Diagnosis - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMonosaccharide Transport Proteinsen_US
dc.subject.meshNucleic Acid Denaturationen_US
dc.subject.meshNucleic Acid Heteroduplexes - Analysisen_US
dc.subject.meshPhosphotransferases - Deficiency - Geneticsen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPregnancyen_US
dc.titlePrenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatographyen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/1097-0223(200009)20:9<765::AID-PD893>3.0.CO;2-Sen_US
dc.identifier.pmid11015710-
dc.identifier.scopuseid_2-s2.0-0033802549en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033802549&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume20en_US
dc.identifier.issue9en_US
dc.identifier.spage765en_US
dc.identifier.epage768en_US
dc.identifier.isiWOS:000089517900016-
dc.publisher.placeUnited Kingdomen_US

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