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Article: Detection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplification

TitleDetection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplification
Authors
Issue Date2009
PublisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
Citation
Journal Of Clinical Pathology, 2009, v. 62 n. 12, p. 1107-1111 How to Cite?
AbstractBackground: Deletions in the β-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. Aims: To use a recently available technique to investigate the frequencies and nature of β-globin cluster deletions in Chinese. Methods: 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the β-globin cluster were studied. A commercially available kit employing multiplex ligation-dependent probe amplification (MLPA) was used to screen for deletions. Gap PCR and direct nucleotide sequencing were used to characterise deletions detected. Results: 17 deletions in the β-globin cluster were found in 17 patients: 8 of Chinese (Aγδβ)0 thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (Aγδβ) 0 thalassaemia. The only type of deletion detected in δβ-thalassaemia was Chinese (Aγδβ) 0 thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (Aγδβ)0 thalassaemia. Deletions presenting as β-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical β-thalassaemia mutations in compound heterozygous states, the phenotypes could be very variable. Conclusions: In the Chinese population, there are only relatively few types of deletions seen in the β-globin cluster. MLPA is a fast and effective way of screening for these deletions. Characterisation of these deletions allows the development of simpler and more specific PCR-based tests for routine diagnostic use. Accurate prediction of phenotype is not always feasible. The molecular defects in many cases of HPFH still await discovery.
Persistent Identifierhttp://hdl.handle.net/10722/128780
ISSN
2014 Impact Factor: 2.915
ISI Accession Number ID
Funding AgencyGrant Number
Children's Thalassaemia Foundation of Hong Kong2007/03
Funding Information:

This work was supported by a grant from the Children's Thalassaemia Foundation of Hong Kong (project no. 2007/03).

References

 

DC FieldValueLanguage
dc.contributor.authorSo, CCen_HK
dc.contributor.authorSo, ACYen_HK
dc.contributor.authorChan, AYYen_HK
dc.contributor.authorTsang, STYen_HK
dc.contributor.authorMa, ESKen_HK
dc.contributor.authorChan, LCen_HK
dc.date.accessioned2010-11-17T06:50:50Z-
dc.date.available2010-11-17T06:50:50Z-
dc.date.issued2009en_HK
dc.identifier.citationJournal Of Clinical Pathology, 2009, v. 62 n. 12, p. 1107-1111en_HK
dc.identifier.issn0021-9746en_HK
dc.identifier.urihttp://hdl.handle.net/10722/128780-
dc.description.abstractBackground: Deletions in the β-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. Aims: To use a recently available technique to investigate the frequencies and nature of β-globin cluster deletions in Chinese. Methods: 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the β-globin cluster were studied. A commercially available kit employing multiplex ligation-dependent probe amplification (MLPA) was used to screen for deletions. Gap PCR and direct nucleotide sequencing were used to characterise deletions detected. Results: 17 deletions in the β-globin cluster were found in 17 patients: 8 of Chinese (Aγδβ)0 thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (Aγδβ) 0 thalassaemia. The only type of deletion detected in δβ-thalassaemia was Chinese (Aγδβ) 0 thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (Aγδβ)0 thalassaemia. Deletions presenting as β-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical β-thalassaemia mutations in compound heterozygous states, the phenotypes could be very variable. Conclusions: In the Chinese population, there are only relatively few types of deletions seen in the β-globin cluster. MLPA is a fast and effective way of screening for these deletions. Characterisation of these deletions allows the development of simpler and more specific PCR-based tests for routine diagnostic use. Accurate prediction of phenotype is not always feasible. The molecular defects in many cases of HPFH still await discovery.en_HK
dc.languageeng-
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/en_HK
dc.relation.ispartofJournal of Clinical Pathologyen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshAdolescent-
dc.subject.meshGene Deletion-
dc.subject.meshMultigene Family - genetics-
dc.subject.meshbeta-Globins - genetics-
dc.subject.meshbeta-Thalassemia - ethnology - genetics-
dc.titleDetection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplificationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0021-9746&volume=62&issue=12&spage=1107&epage=1111&date=2009&atitle=Detection+and+characterisation+of+beta-globin+gene+cluster+deletions+in+Chinese+using+multiplex+ligation-dependent+probe+amplification-
dc.identifier.emailSo, CC:scc@pathology.hku.hken_HK
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_HK
dc.identifier.authoritySo, CC=rp00391en_HK
dc.identifier.authorityChan, LC=rp00373en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1136/jcp.2009.067538en_HK
dc.identifier.pmid19946097en_HK
dc.identifier.scopuseid_2-s2.0-73449107518en_HK
dc.identifier.hkuros174074-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-73449107518&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume62en_HK
dc.identifier.issue12en_HK
dc.identifier.spage1107en_HK
dc.identifier.epage1111en_HK
dc.identifier.eissn1472-4146-
dc.identifier.isiWOS:000272153300010-
dc.publisher.placeUnited Kingdomen_HK

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