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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
2013 Impact Factor: 2.551
 
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 FieldValue
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.eissn1472-4146
 
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
2013 Impact Factor: 2.551
 
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
 
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<contributor.author>Chan, LC</contributor.author>
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<description.abstract>Background: Deletions in the &#946;-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 &#946;-globin cluster deletions in Chinese. Methods: 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the &#946;-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 &#946;-globin cluster were found in 17 patients: 8 of Chinese (A&#947;&#948;&#946;)0 thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (A&#947;&#948;&#946;) 0 thalassaemia. The only type of deletion detected in &#948;&#946;-thalassaemia was Chinese (A&#947;&#948;&#946;) 0 thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (A&#947;&#948;&#946;)0 thalassaemia. Deletions presenting as &#946;-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical &#946;-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 &#946;-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.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Hong Kong Sanatorium and Hospital