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Article: Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians

TitleGlucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians
Authors
Issue Date2006
PublisherOxford University Press. The Journal's web site is located at http://biomed.gerontologyjournals.org/
Citation
Journals Of Gerontology - Series A Biological Sciences And Medical Sciences, 2006, v. 61 n. 10, p. 1086-1089 How to Cite?
AbstractBackground. Age-related skewing of X-chromosome inactivation leading to glucose-6-phosphate dehydrogenase (G6PD) deficiency in elderly women in a population with prevalent G6PD gene mutations was investigated. Methods. G6PD activity was measured biochemically. G6PD mutations were detected by polymerase chain reaction (PCR) and allele-specific extension, and analyzed by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry and Sequenom MassARRAY. X-chromosome inactivation was quantified by semiquantitative PCR for the HUMARA gene, before and after HpaII digestion. Results. In 173 women (median age: 90 years; range, 80-107 years), 18 heterozygotes for G6PD mutations were identified. Three heterozygotes were G6PD deficient, owing to skewed X-chromosome inactivation affecting the wild-type allele. Fifteen heterozygotes, with skewing apparently affecting the mutant alleles, had normal but significantly lower G6PD levels. At 1.73%, G6PD deficiency was significantly more frequent than expected from population screening at birth. Conclusion. Due to skewed X-chromosome inactivation, elderly women in populations with prevalent G6PD mutations are at risk of G6PD deficiency. Copyright 2006 by The Gerontological Society of America.
Persistent Identifierhttp://hdl.handle.net/10722/68272
ISSN
2015 Impact Factor: 5.476
2015 SCImago Journal Rankings: 2.675
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorAu, WYen_HK
dc.contributor.authorLam, Ven_HK
dc.contributor.authorPang, Aen_HK
dc.contributor.authorLee, WMen_HK
dc.contributor.authorChan, JLCen_HK
dc.contributor.authorSong, YQen_HK
dc.contributor.authorMa, ESen_HK
dc.contributor.authorKwong, YLen_HK
dc.date.accessioned2010-09-06T06:03:00Z-
dc.date.available2010-09-06T06:03:00Z-
dc.date.issued2006en_HK
dc.identifier.citationJournals Of Gerontology - Series A Biological Sciences And Medical Sciences, 2006, v. 61 n. 10, p. 1086-1089en_HK
dc.identifier.issn1079-5006en_HK
dc.identifier.urihttp://hdl.handle.net/10722/68272-
dc.description.abstractBackground. Age-related skewing of X-chromosome inactivation leading to glucose-6-phosphate dehydrogenase (G6PD) deficiency in elderly women in a population with prevalent G6PD gene mutations was investigated. Methods. G6PD activity was measured biochemically. G6PD mutations were detected by polymerase chain reaction (PCR) and allele-specific extension, and analyzed by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry and Sequenom MassARRAY. X-chromosome inactivation was quantified by semiquantitative PCR for the HUMARA gene, before and after HpaII digestion. Results. In 173 women (median age: 90 years; range, 80-107 years), 18 heterozygotes for G6PD mutations were identified. Three heterozygotes were G6PD deficient, owing to skewed X-chromosome inactivation affecting the wild-type allele. Fifteen heterozygotes, with skewing apparently affecting the mutant alleles, had normal but significantly lower G6PD levels. At 1.73%, G6PD deficiency was significantly more frequent than expected from population screening at birth. Conclusion. Due to skewed X-chromosome inactivation, elderly women in populations with prevalent G6PD mutations are at risk of G6PD deficiency. Copyright 2006 by The Gerontological Society of America.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://biomed.gerontologyjournals.org/en_HK
dc.relation.ispartofJournals of Gerontology - Series A Biological Sciences and Medical Sciencesen_HK
dc.rightsJournals of Gerontology. Series A: Biological Sciences & Medical Sciences. Copyright © American Society of Civil Engineers.en_HK
dc.subject.meshAgeden_HK
dc.subject.meshAged, 80 and overen_HK
dc.subject.meshAging - metabolismen_HK
dc.subject.meshCohort Studiesen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshGlucosephosphate Dehydrogenase - geneticsen_HK
dc.subject.meshGlucosephosphate Dehydrogenase Deficiency - epidemiology - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMutationen_HK
dc.subject.meshPhenotypeen_HK
dc.subject.meshX Chromosome Inactivationen_HK
dc.titleGlucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenariansen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0733-950X&volume=61&issue=10&spage=1086&epage=1089&date=2006&atitle=Glucose-6-phosphate+dehydrogenase+deficiency+in+female+octogenarians,+nanogenarians,+and+centenariansen_HK
dc.identifier.emailSong, YQ:songy@hkucc.hku.hken_HK
dc.identifier.emailKwong, YL:ylkwong@hku.hken_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.identifier.authorityKwong, YL=rp00358en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid17077204-
dc.identifier.scopuseid_2-s2.0-33750913512en_HK
dc.identifier.hkuros137156en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33750913512&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume61en_HK
dc.identifier.issue10en_HK
dc.identifier.spage1086en_HK
dc.identifier.epage1089en_HK
dc.identifier.isiWOS:000241788300013-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridAu, WY=7202383089en_HK
dc.identifier.scopusauthoridLam, V=7006169664en_HK
dc.identifier.scopusauthoridPang, A=7007044165en_HK
dc.identifier.scopusauthoridLee, WM=15060227100en_HK
dc.identifier.scopusauthoridChan, JLC=7403286751en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK
dc.identifier.scopusauthoridMa, ES=7202039934en_HK
dc.identifier.scopusauthoridKwong, YL=7102818954en_HK

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