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Conference Paper: Mutation studies of Chinese patients with Wiskott-Aldrich Syndrome
Title | Mutation studies of Chinese patients with Wiskott-Aldrich Syndrome |
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Authors | |
Issue Date | 1997 |
Publisher | Medcom 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? |
Abstract | AIMS: 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 Identifier | http://hdl.handle.net/10722/106323 |
ISSN | 2023 Impact Factor: 0.1 2023 SCImago Journal Rankings: 0.117 |
DC Field | Value | Language |
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dc.contributor.author | Hui, YF | - |
dc.contributor.author | Chan, SY | - |
dc.contributor.author | Lau, YL | - |
dc.date.accessioned | 2010-09-25T23:10:56Z | - |
dc.date.available | 2010-09-25T23:10:56Z | - |
dc.date.issued | 1997 | - |
dc.identifier.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 | - |
dc.identifier.issn | 1013-9923 | - |
dc.identifier.uri | http://hdl.handle.net/10722/106323 | - |
dc.description.abstract | AIMS: 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.language | eng | - |
dc.publisher | Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp | - |
dc.relation.ispartof | Hong Kong Journal of Paediatrics (New Series) | - |
dc.title | Mutation studies of Chinese patients with Wiskott-Aldrich Syndrome | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Chan, SY: sychan@hkucc.hku.hk | - |
dc.identifier.email | Lau, YL: lauylung@hkucc.hku.hk | - |
dc.identifier.authority | Chan, SY=rp00356 | - |
dc.identifier.authority | Lau, YL=rp00361 | - |
dc.identifier.hkuros | 28461 | - |
dc.identifier.spage | 183 | - |
dc.identifier.epage | 184 | - |
dc.publisher.place | Hong Kong | - |
dc.identifier.issnl | 1013-9923 | - |