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Article: Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease

TitleIdentification of mutations in seven Chinese patients with X-linked chronic granulomatous disease
Authors
Issue Date1996
PublisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/
Citation
Blood, 1996, v. 88 n. 10, p. 4021-4028 How to Cite?
AbstractX-linked chronic granulomatous disease (CGD) is due to mutations in the gp91phox gene on Xp21.1. Studies in white and Japanese X-linked CGD patients have shown mutations in nearly every exon. We studied the molecular defect of seven Chinese patients with X-linked CGD from six unrelated families. Mutations were located by single-strand conformation polymorphism and then defined by sequence analysis. The mutations were two different amine acid substitutions, a nonsense mutation, an in-frame trinucleotide deletion, a single A insertion causing a frameshift, and a premature stop. Lastly, a rare splice site mutation caused by G to A transition at the terminal nucleotide of exon 3, resulting in the skipping of exon 3, was found. The possible effects of these mutations on protein structure-function or splicing were discussed. Together with previous reports, the A insertion in the run of six As from nucleotide 749 to 754 and the G to A transition at the terminal position of exon 3 may be mutation hotspots of the 9p91phox gene. The extreme heterogeneous mutations found in our patients suggest the absence of ethnic group-specific mutation.
Persistent Identifierhttp://hdl.handle.net/10722/49265
ISSN
2015 Impact Factor: 11.841
2015 SCImago Journal Rankings: 6.395
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHui, YFen_HK
dc.contributor.authorChan, SYen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2008-06-12T06:38:00Z-
dc.date.available2008-06-12T06:38:00Z-
dc.date.issued1996en_HK
dc.identifier.citationBlood, 1996, v. 88 n. 10, p. 4021-4028en_HK
dc.identifier.issn0006-4971en_HK
dc.identifier.urihttp://hdl.handle.net/10722/49265-
dc.description.abstractX-linked chronic granulomatous disease (CGD) is due to mutations in the gp91phox gene on Xp21.1. Studies in white and Japanese X-linked CGD patients have shown mutations in nearly every exon. We studied the molecular defect of seven Chinese patients with X-linked CGD from six unrelated families. Mutations were located by single-strand conformation polymorphism and then defined by sequence analysis. The mutations were two different amine acid substitutions, a nonsense mutation, an in-frame trinucleotide deletion, a single A insertion causing a frameshift, and a premature stop. Lastly, a rare splice site mutation caused by G to A transition at the terminal nucleotide of exon 3, resulting in the skipping of exon 3, was found. The possible effects of these mutations on protein structure-function or splicing were discussed. Together with previous reports, the A insertion in the run of six As from nucleotide 749 to 754 and the G to A transition at the terminal position of exon 3 may be mutation hotspots of the 9p91phox gene. The extreme heterogeneous mutations found in our patients suggest the absence of ethnic group-specific mutation.en_HK
dc.format.extent418 bytes-
dc.format.mimetypetext/html-
dc.languageengen_HK
dc.publisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/en_HK
dc.relation.ispartofBlooden_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshGranulomatous Disease, Chronic - ethnology - geneticsen_HK
dc.subject.meshMembrane Glycoproteins - chemistry - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshX Chromosome - geneticsen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.titleIdentification of mutations in seven Chinese patients with X-linked chronic granulomatous diseaseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0006-4971&volume=88&issue=10&spage=4021&epage=4028&date=1996&atitle=Identification+of+mutations+in+seven+Chinese+patients+with+X-linked+chronic+granulomatous+diseaseen_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid8916969-
dc.identifier.scopuseid_2-s2.0-0029803959en_HK
dc.identifier.hkuros21286-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029803959&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume88en_HK
dc.identifier.issue10en_HK
dc.identifier.spage4021en_HK
dc.identifier.epage4028en_HK
dc.identifier.isiWOS:A1996VU98400039-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridHui, YF=7103107552en_HK
dc.identifier.scopusauthoridChan, SY=7404255960en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK

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