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Article: Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

TitleLinkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene
Authors
Issue Date1998
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1998, v. 103 n. 2, p. 199-203 How to Cite?
AbstractRecent studies have indicated that the four most common mutations account for 78% of mutant alleles in the glucose-6-phosphatase (G6Pase) gene. A significant fraction of mutant alleles remain unidentified. Thus, informative polymorphic markers are necessary for linkage analysis in carrier testing and prenatal diagnosis in families where mutations can not be identified. The common mutations appear to be ethnic-specific, suggesting that the individual mutations may have a common founder. With the recent discovery of the nucleotide 1176 polymorphism, we have studied whether these mutations are in linkage disequilibrium with the polymorphism. The results of polymerase chain reaction/allele-specific oligonucleotide analysis show that nucleotide 1176 C is in linkage disequilibrium with mutations R83 C and R83H, and with the splicing mutation 727G→T. The 1176 T polymorphism is in linkage disequilibrium with 459insTA. A GT repeat polymorphism has also been found. However, its heterozygosity is low. The 1176 nucleotide polymorphic marker can be used in carrier and prenatal diagnosis of GSD1a families that have unidentified mutations and are informative for this marker.
Persistent Identifierhttp://hdl.handle.net/10722/148102
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWong, LJCen_US
dc.contributor.authorLiang, MHen_US
dc.contributor.authorHwu, WLen_US
dc.contributor.authorLam, CWen_US
dc.date.accessioned2012-05-29T06:10:51Z-
dc.date.available2012-05-29T06:10:51Z-
dc.date.issued1998en_US
dc.identifier.citationHuman Genetics, 1998, v. 103 n. 2, p. 199-203en_US
dc.identifier.issn0340-6717en_US
dc.identifier.urihttp://hdl.handle.net/10722/148102-
dc.description.abstractRecent studies have indicated that the four most common mutations account for 78% of mutant alleles in the glucose-6-phosphatase (G6Pase) gene. A significant fraction of mutant alleles remain unidentified. Thus, informative polymorphic markers are necessary for linkage analysis in carrier testing and prenatal diagnosis in families where mutations can not be identified. The common mutations appear to be ethnic-specific, suggesting that the individual mutations may have a common founder. With the recent discovery of the nucleotide 1176 polymorphism, we have studied whether these mutations are in linkage disequilibrium with the polymorphism. The results of polymerase chain reaction/allele-specific oligonucleotide analysis show that nucleotide 1176 C is in linkage disequilibrium with mutations R83 C and R83H, and with the splicing mutation 727G→T. The 1176 T polymorphism is in linkage disequilibrium with 459insTA. A GT repeat polymorphism has also been found. However, its heterozygosity is low. The 1176 nucleotide polymorphic marker can be used in carrier and prenatal diagnosis of GSD1a families that have unidentified mutations and are informative for this marker.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_US
dc.relation.ispartofHuman Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGlucose-6-Phosphatase - Geneticsen_US
dc.subject.meshGlycogen Storage Disease Type I - Enzymology - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshPedigreeen_US
dc.titleLinkage disequilibrium and linkage analysis of the glucose-6-phosphatase geneen_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.doi10.1007/s004390050807en_US
dc.identifier.pmid9760206-
dc.identifier.scopuseid_2-s2.0-0031691578en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031691578&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume103en_US
dc.identifier.issue2en_US
dc.identifier.spage199en_US
dc.identifier.epage203en_US
dc.identifier.isiWOS:000076035600015-
dc.publisher.placeGermanyen_US

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