DNA-BASED MUTATION ANALYSIS OF BRUTONS TYROSINE KINASE GENE IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA
The identification of the BTK(Bruton's tyrosine kinase) gene defective in human immunoglobulin deficiency X-Iinked agammaglobulinaemia (XLA) and characterisation of BTK exon-intron boundaries has now allowed the analysis of mutations and polymorphisms at the level of genomic DNA, Using Southern blot analysis and the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) assay