Abstract:
OBJECTIVE:Molecular analysis of the Bruton's tyrosine kinase (Btk) gene in two unrelated families, with a combined total of seven boys, affected by X-linked agammaglobulinaemia (XLA). METHODS:Protein electrophoresis and western blotting were used for the examination of Btk protein synthesis in blood leucocytes. Isolation of the coding sequence of the Btk gene was performed by amplification using the reverse transcription-polymerase chain reaction (RT-PCR) technique. Sequence alterations were screened for by the single-stranded conformation polymorphism (SSCP) method and characterized by standard sequencing protocols. RESULTS:Western blotting revealed Btk protein to be absent in leucocytes of affected males from both families. A novel 3 b.p. deletion in exon 3 of the Btk gene was found to be responsible for the XLA phenotype in the affected proband in one family (kindred I). A diagnostic PCR assay was established to detect this mutation in other affected male siblings and carrier females. For the second family (kindred II), the coding sequence of the Btk gene and the promoter region were found to be normal. CONCLUSIONS:The present study has demonstrated genetic heterogeneity in the Btk gene in South African XLA patients and has identified a novel mutation in this gene in the largest of the affected kindreds. The gene mutation in the second kindred was undetermined and may be indicative of a defect in some other gene associated with Btk function or stability. Western blotting was found to be informative in establishing a deficiency of Btk protein in both probands and is recommended as a frontline procedure in the molecular diagnosis and work-up of XLA.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Pienaar S,Eley B,Beatty DW,Henderson HEdoi
10.1046/j.1440-1754.2000.00546.xkeywords:
subject
Has Abstractpub_date
2000-10-01 00:00:00pages
453-6issue
5eissn
1034-4810issn
1440-1754journal_volume
36pub_type
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journal_title:Journal of paediatrics and child health
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journal_title:Journal of paediatrics and child health
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journal_title:Journal of paediatrics and child health
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pub_type: 杂志文章,随机对照试验
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pub_type: 杂志文章,随机对照试验
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更新日期:2006-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2008-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2014-07-01 00:00:00
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pub_type: 历史文章,杂志文章
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更新日期:2004-07-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01651.x
更新日期:2010-04-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
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更新日期:2018-05-01 00:00:00
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pub_type: 杂志文章,多中心研究
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更新日期:2013-12-01 00:00:00
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journal_title:Journal of paediatrics and child health
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doi:10.1111/j.1440-1754.2005.00531.x
更新日期:2005-01-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00118.x
更新日期:2003-03-01 00:00:00