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Article: G6PD deficiency from lyonization after hematopoietic stem cell transplantation from female heterozygous donors

TitleG6PD deficiency from lyonization after hematopoietic stem cell transplantation from female heterozygous donors
Authors
Issue Date2007
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/bmt
Citation
Bone Marrow Transplantation, 2007, v. 40 n. 7, p. 677-681 How to Cite?
AbstractTo determine whether during hematopoietic stem cell transplantation (HSCT), X-chromosome inactivation (lyonization) of donor HSC might change after engraftment in recipients, the glucose-6-phosphate dehydrogenase (G6PD) gene of 180 female donors was genotyped by PCR/ allele-specific primer extension, and MALDI-TOF mass spectrometry/ Sequenom MassARRAY analysis. X-inactivation was determined by semiquantitative PCR for the HUMARA gene before/after HpaII digestion. X-inactivation was preserved in most cases post-HSCT, although altered skewing of lyonization might occur to either of the X-chromosomes. Among pre-HSCT clinicopathologic parameters analyzed, only recipient gender significantly affected skewing. Seven donors with normal G6PD biochemically but heterozygous for G6PD mutants were identified. Owing to lyonization changes, some donor-recipient pairs showed significantly different G6PD levels. In one donor-recipient pair, extreme lyonization affecting the wild-type G6PD allele occurred, causing biochemical G6PD deficiency in the recipient. In HSCT from asymptomatic female donors heterozygous for X-linked recessive disorders, altered lyonization might cause clinical diseases in the recipients.
Persistent Identifierhttp://hdl.handle.net/10722/68145
ISSN
2015 Impact Factor: 3.636
2015 SCImago Journal Rankings: 1.585
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorAu, WYen_HK
dc.contributor.authorPang, Aen_HK
dc.contributor.authorLam, KKYen_HK
dc.contributor.authorSong, YQen_HK
dc.contributor.authorLee, WMen_HK
dc.contributor.authorSo, JCCen_HK
dc.contributor.authorKwong, YLen_HK
dc.date.accessioned2010-09-06T06:01:47Z-
dc.date.available2010-09-06T06:01:47Z-
dc.date.issued2007en_HK
dc.identifier.citationBone Marrow Transplantation, 2007, v. 40 n. 7, p. 677-681en_HK
dc.identifier.issn0268-3369en_HK
dc.identifier.urihttp://hdl.handle.net/10722/68145-
dc.description.abstractTo determine whether during hematopoietic stem cell transplantation (HSCT), X-chromosome inactivation (lyonization) of donor HSC might change after engraftment in recipients, the glucose-6-phosphate dehydrogenase (G6PD) gene of 180 female donors was genotyped by PCR/ allele-specific primer extension, and MALDI-TOF mass spectrometry/ Sequenom MassARRAY analysis. X-inactivation was determined by semiquantitative PCR for the HUMARA gene before/after HpaII digestion. X-inactivation was preserved in most cases post-HSCT, although altered skewing of lyonization might occur to either of the X-chromosomes. Among pre-HSCT clinicopathologic parameters analyzed, only recipient gender significantly affected skewing. Seven donors with normal G6PD biochemically but heterozygous for G6PD mutants were identified. Owing to lyonization changes, some donor-recipient pairs showed significantly different G6PD levels. In one donor-recipient pair, extreme lyonization affecting the wild-type G6PD allele occurred, causing biochemical G6PD deficiency in the recipient. In HSCT from asymptomatic female donors heterozygous for X-linked recessive disorders, altered lyonization might cause clinical diseases in the recipients.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/bmten_HK
dc.relation.ispartofBone Marrow Transplantationen_HK
dc.subject.meshAdulten_HK
dc.subject.meshChild, Preschoolen_HK
dc.subject.meshChromosomes, Human, Xen_HK
dc.subject.meshDNA Primersen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshGlucosephosphate Dehydrogenase - blood - geneticsen_HK
dc.subject.meshGlucosephosphate Dehydrogenase Deficiency - geneticsen_HK
dc.subject.meshHematopoietic Stem Cell Transplantation - adverse effectsen_HK
dc.subject.meshHeterozygote Detectionen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshPolymerase Chain Reactionen_HK
dc.subject.meshPolymorphism, Geneticen_HK
dc.subject.meshReceptors, Androgen - geneticsen_HK
dc.subject.meshReference Valuesen_HK
dc.subject.meshRestriction Mappingen_HK
dc.subject.meshSiblingsen_HK
dc.subject.meshTissue Donors - statistics & numerical dataen_HK
dc.titleG6PD deficiency from lyonization after hematopoietic stem cell transplantation from female heterozygous donorsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0268-3369&volume=40&issue=7&spage=677&epage=681&date=2007&atitle=G6PD+deficiency+from+lyonization+after+hematopoietic+stem+cell+transplantation+from+female+heterozygous+donorsen_HK
dc.identifier.emailSong, YQ:songy@hkucc.hku.hken_HK
dc.identifier.emailSo, JCC:scc@pathology.hku.hken_HK
dc.identifier.emailKwong, YL:ylkwong@hku.hken_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.identifier.authoritySo, JCC=rp00391en_HK
dc.identifier.authorityKwong, YL=rp00358en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/sj.bmt.1705796en_HK
dc.identifier.pmid17660836-
dc.identifier.scopuseid_2-s2.0-34648837867en_HK
dc.identifier.hkuros137528en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34648837867&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume40en_HK
dc.identifier.issue7en_HK
dc.identifier.spage677en_HK
dc.identifier.epage681en_HK
dc.identifier.isiWOS:000249555700009-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridAu, WY=7202383089en_HK
dc.identifier.scopusauthoridPang, A=7007044165en_HK
dc.identifier.scopusauthoridLam, KKY=24500299800en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK
dc.identifier.scopusauthoridLee, WM=15060227100en_HK
dc.identifier.scopusauthoridSo, JCC=7102919978en_HK
dc.identifier.scopusauthoridKwong, YL=7102818954en_HK
dc.identifier.citeulike1523170-

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