File Download
  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Detection of known haemophilia B mutations and carrier testing by microarray

TitleDetection of known haemophilia B mutations and carrier testing by microarray
Authors
KeywordsAS-APEX
FIX microarray
FIX mutations
Haemophilia B
Issue Date2005
PublisherSchattauer GmbH. The Journal's web site is located at http://www.thrombosis-online.com
Citation
Thrombosis And Haemostasis, 2005, v. 94 n. 4, p. 872-878 How to Cite?
AbstractThe molecular basis of haemophilia B is heterogeneous and many mutations of the Factor IX (FIX) gene have been characterised. Using the allele-specific arrayed primer extension (AS-APEX) technology, we have designed a FIX array to simultaneously analyse 69 mutations found in British, Thai and Chinese patients. This technology overcomes the problem of multiple reverse dot-blot analysis and has a 100% accuracy in the detection of both affected subjects and carriers in families with known mutations. In seven unknown mutations from Thailand, the array could detect the specific mutation in five and in the remainders the normal primer at specific spots failed to extend due to a mutation a few nucleotides upstream, thus allowing their identification. Hence this FIX array can detect 53% of the 2891 mutation entries in the FIX database. Each of the microarray slide can be used for three different test samples and would be useful for carrier testing for common mutations and prenatal diagnosis. It is simpler and more cost effective than genome sequencing and would be particularly useful in laboratories with limited technical capabilities. © 2005 Schattauer GmbH, Stuttgart.
Persistent Identifierhttp://hdl.handle.net/10722/57516
ISSN
2015 Impact Factor: 5.255
2015 SCImago Journal Rankings: 2.089
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ken_HK
dc.contributor.authorSasanakul, Wen_HK
dc.contributor.authorMellars, Gen_HK
dc.contributor.authorChuansumrit, Aen_HK
dc.contributor.authorPerry, Den_HK
dc.contributor.authorLee, CAen_HK
dc.contributor.authorWong, MSen_HK
dc.contributor.authorChan, TKen_HK
dc.contributor.authorChan, Ven_HK
dc.date.accessioned2010-04-12T01:38:56Z-
dc.date.available2010-04-12T01:38:56Z-
dc.date.issued2005en_HK
dc.identifier.citationThrombosis And Haemostasis, 2005, v. 94 n. 4, p. 872-878en_HK
dc.identifier.issn0340-6245en_HK
dc.identifier.urihttp://hdl.handle.net/10722/57516-
dc.description.abstractThe molecular basis of haemophilia B is heterogeneous and many mutations of the Factor IX (FIX) gene have been characterised. Using the allele-specific arrayed primer extension (AS-APEX) technology, we have designed a FIX array to simultaneously analyse 69 mutations found in British, Thai and Chinese patients. This technology overcomes the problem of multiple reverse dot-blot analysis and has a 100% accuracy in the detection of both affected subjects and carriers in families with known mutations. In seven unknown mutations from Thailand, the array could detect the specific mutation in five and in the remainders the normal primer at specific spots failed to extend due to a mutation a few nucleotides upstream, thus allowing their identification. Hence this FIX array can detect 53% of the 2891 mutation entries in the FIX database. Each of the microarray slide can be used for three different test samples and would be useful for carrier testing for common mutations and prenatal diagnosis. It is simpler and more cost effective than genome sequencing and would be particularly useful in laboratories with limited technical capabilities. © 2005 Schattauer GmbH, Stuttgart.en_HK
dc.languageengen_HK
dc.publisherSchattauer GmbH. The Journal's web site is located at http://www.thrombosis-online.comen_HK
dc.relation.ispartofThrombosis and Haemostasisen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsThrombosis and Haemostasis. Copyright © Schattauer GmbH.en_HK
dc.subjectAS-APEXen_HK
dc.subjectFIX microarrayen_HK
dc.subjectFIX mutationsen_HK
dc.subjectHaemophilia Ben_HK
dc.titleDetection of known haemophilia B mutations and carrier testing by microarrayen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0340-6245&volume=94&issue=4&spage=872&epage=878&date=2005&atitle=Detection+of+known+haemophilia+B+mutations+and+carrier+testing+by+microarrayen_HK
dc.identifier.emailChan, K: kaimin@hkucc.hku.hken_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, K=rp00489en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1160/TH05-02-0128en_HK
dc.identifier.pmid16270645-
dc.identifier.scopuseid_2-s2.0-27144560227en_HK
dc.identifier.hkuros113811-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-27144560227&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume94en_HK
dc.identifier.issue4en_HK
dc.identifier.spage872en_HK
dc.identifier.epage878en_HK
dc.identifier.isiWOS:000232770300029-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridChan, K=7406032228en_HK
dc.identifier.scopusauthoridSasanakul, W=6701621463en_HK
dc.identifier.scopusauthoridMellars, G=17635561600en_HK
dc.identifier.scopusauthoridChuansumrit, A=7004373857en_HK
dc.identifier.scopusauthoridPerry, D=7202212801en_HK
dc.identifier.scopusauthoridLee, CA=8729876400en_HK
dc.identifier.scopusauthoridWong, MS=35773949100en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats