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

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TitleDetection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplification
AuthorsSo, CC1
So, ACY1
Chan, AYY1
Tsang, STY1
Ma, ESK2
Chan, LC1
Issue Date2009
PublisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
CitationJournal Of Clinical Pathology, 2009, v. 62 n. 12, p. 1107-1111 [How to Cite?]
DOI: http://dx.doi.org/10.1136/jcp.2009.067538
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.
ISSN0021-9746
2011 Impact Factor: 2.306
2011 SCImago Journal Rankings: 0.236
DOIhttp://dx.doi.org/10.1136/jcp.2009.067538
ISI Accession Number IDWOS:000272153300010
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).

ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorSo, CC
dc.contributor.authorSo, ACY
dc.contributor.authorChan, AYY
dc.contributor.authorTsang, STY
dc.contributor.authorMa, ESK
dc.contributor.authorChan, LC
dc.date.accessioned2010-11-17T06:50:50Z
dc.date.available2010-11-17T06:50:50Z
dc.date.issued2009
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.
dc.description.naturepublished_or_final_version
dc.identifier.citationJournal Of Clinical Pathology, 2009, v. 62 n. 12, p. 1107-1111 [How to Cite?]
DOI: http://dx.doi.org/10.1136/jcp.2009.067538
dc.identifier.doihttp://dx.doi.org/10.1136/jcp.2009.067538
dc.identifier.epage1111
dc.identifier.hkuros174074
dc.identifier.isiWOS:000272153300010
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).

dc.identifier.issn0021-9746
2011 Impact Factor: 2.306
2011 SCImago Journal Rankings: 0.236
dc.identifier.issue12
dc.identifier.openurl
dc.identifier.pmid19946097
dc.identifier.scopuseid_2-s2.0-73449107518
dc.identifier.spage1107
dc.identifier.urihttp://hdl.handle.net/10722/128780
dc.identifier.volume62
dc.languageeng
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
dc.publisher.placeUnited Kingdom
dc.relation.ispartofJournal of Clinical Pathology
dc.relation.referencesReferences in Scopus
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 amplification
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Hong Kong Sanatorium and Hospital