File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
  • Find via Find It@HKUL
Supplementary

Conference Paper: Mutation studies of Chinese patients with Wiskott-Aldrich Syndrome

TitleMutation studies of Chinese patients with Wiskott-Aldrich Syndrome
Authors
Issue Date1997
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
The 35th Anniversary Scientific Meeting of the Hong Kong Paediatric Society (HKPS), Hong Kong, 6 September 1997. In Hong Kong Journal of Paediatrics (New Series), 1997, p. 183-184 How to Cite?
AbstractAIMS: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficieny. The afflicted patients suffer from thrombocytopenia with small platelets, ezcema, defects of both T and B cell immunity, and increased risk of malignancies. Mutations in WASP gene at Xp 11.23 was found responsible for this genetic disorder. It was found that mutations predominate in the amino-terminal region of the gene. Single base substitutions are the commonest type of mutations, while small insertions! deletions are rare. Our project is aimed at characterizing mutations in 4 Chinese patients with WAS. All of them were treated by bone marrow transfusion (BMT) before this project commenced. METHODS: Genomic DNA of the patients both before and after BMT were analysed by single-stranded conformation polymorphism (SSCP) and PCR-sequencing. RESULTS: After screening each exon (exon/intron boundary sequences included) by SSCP analysis, exon 10 of Patient CK's pre-BMT DNA was the only DNA fragment shifted abnormally. It was found to be caused by a small deletion of 11 base-pair in the exon. Completely normal exon 10 was shown from his DNA post-BMT by PCR-sequencing. This suggested a complete replacement of his bone marrow with the normal one after transplant, or that the abnormal gene was at a level beyond detection by PCR. The deletion caused frameshift in translation and a premature stop codon at the carboxyl-terminal part of the protein. This kind of deletion was not reported in previous studies from other countries. PCR amplification of exon 3&4 of Patient MW was unsuccessful. It is possible that a small genomic deletion may be responsible for this. SSCP analysis of exons of Patient CS & CP failed to reveal any abnormally shifted exon fragments. Sequencing of their exon 3, which was reported to be the most common mutated exon and contained a mutational hotspot at codon 86, showed absence of mutations. CONCLUSION: Our preliminary results suggest the idea of mutational hotspot at codon 86 may be invalid in Chinese WAS patients, and a more diverse mutational pattern is to be expected.
Persistent Identifierhttp://hdl.handle.net/10722/106323
ISSN
2015 Impact Factor: 0.194
2015 SCImago Journal Rankings: 0.123

 

DC FieldValueLanguage
dc.contributor.authorHui, YF-
dc.contributor.authorChan, SY-
dc.contributor.authorLau, YL-
dc.date.accessioned2010-09-25T23:10:56Z-
dc.date.available2010-09-25T23:10:56Z-
dc.date.issued1997-
dc.identifier.citationThe 35th Anniversary Scientific Meeting of the Hong Kong Paediatric Society (HKPS), Hong Kong, 6 September 1997. In Hong Kong Journal of Paediatrics (New Series), 1997, p. 183-184-
dc.identifier.issn1013-9923-
dc.identifier.urihttp://hdl.handle.net/10722/106323-
dc.description.abstractAIMS: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficieny. The afflicted patients suffer from thrombocytopenia with small platelets, ezcema, defects of both T and B cell immunity, and increased risk of malignancies. Mutations in WASP gene at Xp 11.23 was found responsible for this genetic disorder. It was found that mutations predominate in the amino-terminal region of the gene. Single base substitutions are the commonest type of mutations, while small insertions! deletions are rare. Our project is aimed at characterizing mutations in 4 Chinese patients with WAS. All of them were treated by bone marrow transfusion (BMT) before this project commenced. METHODS: Genomic DNA of the patients both before and after BMT were analysed by single-stranded conformation polymorphism (SSCP) and PCR-sequencing. RESULTS: After screening each exon (exon/intron boundary sequences included) by SSCP analysis, exon 10 of Patient CK's pre-BMT DNA was the only DNA fragment shifted abnormally. It was found to be caused by a small deletion of 11 base-pair in the exon. Completely normal exon 10 was shown from his DNA post-BMT by PCR-sequencing. This suggested a complete replacement of his bone marrow with the normal one after transplant, or that the abnormal gene was at a level beyond detection by PCR. The deletion caused frameshift in translation and a premature stop codon at the carboxyl-terminal part of the protein. This kind of deletion was not reported in previous studies from other countries. PCR amplification of exon 3&4 of Patient MW was unsuccessful. It is possible that a small genomic deletion may be responsible for this. SSCP analysis of exons of Patient CS & CP failed to reveal any abnormally shifted exon fragments. Sequencing of their exon 3, which was reported to be the most common mutated exon and contained a mutational hotspot at codon 86, showed absence of mutations. CONCLUSION: Our preliminary results suggest the idea of mutational hotspot at codon 86 may be invalid in Chinese WAS patients, and a more diverse mutational pattern is to be expected.-
dc.languageeng-
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp-
dc.relation.ispartofHong Kong Journal of Paediatrics (New Series)-
dc.titleMutation studies of Chinese patients with Wiskott-Aldrich Syndrome-
dc.typeConference_Paper-
dc.identifier.emailChan, SY: sychan@hkucc.hku.hk-
dc.identifier.emailLau, YL: lauylung@hkucc.hku.hk-
dc.identifier.authorityChan, SY=rp00356-
dc.identifier.authorityLau, YL=rp00361-
dc.identifier.hkuros28461-
dc.identifier.spage183-
dc.identifier.epage184-
dc.publisher.placeHong Kong-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats