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Article: A novel mutation of Arg306 of factor V gene in Hong Kong chinese

TitleA novel mutation of Arg306 of factor V gene in Hong Kong chinese
Authors
Issue Date1998
PublisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/
Citation
Blood, 1998, v. 91 n. 4, p. 1135-1139 How to Cite?
AbstractWe have analyzed 83 unrelated Hong Kong Chinese for the presence of genetic variants of factor V gene. Forty-three of them had a history of deep vein thrombosis. The DNA sequence variations of exons 7, 10, and 13, where the codons for Arg306, Arg506, and Arg679 are located, respectively, were studied by denaturing gradient gel electrophoresis. The G1691→A (Arg 506→Gln) mutation in exon 10 was not detectable in any of the 83 subjects. However, a high allelic frequency for the G1628→A (Arg 485→Lys) substitution was detectable in the same exon. We have also identified a novel DNA sequence mutation (A1090→G) in exon 7 that resulted in Arg 306→Gly substitution in 2 thrombotic patients and 1 nonthrombotic subject. Fresh blood samples were available from one of them for analysis of activated protein C resistance and the result was negative. Variation of DNA sequence was not found in exon 13 in any of our 83 subjects. The results of this study showed that, although the Arg 506→Gln mutation was rarely found in the Hong Kong Chinese population, a different mutation site such as A 1090→G in exon 7 of the factor V gene (Arg 306) may be of clinical importance.
Persistent Identifierhttp://hdl.handle.net/10722/49067
ISSN
2015 Impact Factor: 11.841
2015 SCImago Journal Rankings: 6.395
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, WPen_HK
dc.contributor.authorLee, CKen_HK
dc.contributor.authorKwong, YLen_HK
dc.contributor.authorLam, CKen_HK
dc.contributor.authorLiang, Ren_HK
dc.date.accessioned2008-06-12T06:33:41Z-
dc.date.available2008-06-12T06:33:41Z-
dc.date.issued1998en_HK
dc.identifier.citationBlood, 1998, v. 91 n. 4, p. 1135-1139en_HK
dc.identifier.issn0006-4971en_HK
dc.identifier.urihttp://hdl.handle.net/10722/49067-
dc.description.abstractWe have analyzed 83 unrelated Hong Kong Chinese for the presence of genetic variants of factor V gene. Forty-three of them had a history of deep vein thrombosis. The DNA sequence variations of exons 7, 10, and 13, where the codons for Arg306, Arg506, and Arg679 are located, respectively, were studied by denaturing gradient gel electrophoresis. The G1691→A (Arg 506→Gln) mutation in exon 10 was not detectable in any of the 83 subjects. However, a high allelic frequency for the G1628→A (Arg 485→Lys) substitution was detectable in the same exon. We have also identified a novel DNA sequence mutation (A1090→G) in exon 7 that resulted in Arg 306→Gly substitution in 2 thrombotic patients and 1 nonthrombotic subject. Fresh blood samples were available from one of them for analysis of activated protein C resistance and the result was negative. Variation of DNA sequence was not found in exon 13 in any of our 83 subjects. The results of this study showed that, although the Arg 506→Gln mutation was rarely found in the Hong Kong Chinese population, a different mutation site such as A 1090→G in exon 7 of the factor V gene (Arg 306) may be of clinical importance.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.meshAsian Continental Ancestry Groupen_HK
dc.subject.meshFactor V - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshArginine - geneticsen_HK
dc.subject.meshHong Kong - ethnologyen_HK
dc.titleA novel mutation of Arg306 of factor V gene in Hong Kong chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0006-4971&volume=91&issue=4&spage=1135&epage=1139&date=1998&atitle=A+novel+mutation+of+Arg306+of+factor+V+gene+in+Hong+Kong+Chineseen_HK
dc.identifier.emailKwong, YL:ylkwong@hku.hken_HK
dc.identifier.emailLiang, R:rliang@hku.hken_HK
dc.identifier.authorityKwong, YL=rp00358en_HK
dc.identifier.authorityLiang, R=rp00345en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid9454741-
dc.identifier.scopuseid_2-s2.0-0032520034en_HK
dc.identifier.hkuros28967-
dc.identifier.hkuros41315-
dc.identifier.hkuros29597-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0032520034&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume91en_HK
dc.identifier.issue4en_HK
dc.identifier.spage1135en_HK
dc.identifier.epage1139en_HK
dc.identifier.isiWOS:000071943500002-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChan, WP=7403918278en_HK
dc.identifier.scopusauthoridLee, CK=7410162028en_HK
dc.identifier.scopusauthoridKwong, YL=7102818954en_HK
dc.identifier.scopusauthoridLam, CK=7402990801en_HK
dc.identifier.scopusauthoridLiang, R=26643224900en_HK

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