Fig. 2.

The concise detection of the BTK gene mutation of IVS11 + 3G→T in this family. The upper panel shows the strategy for the detection of the mutation. An antisense strand mismatch primer, which introduced a MseI site de novo in the mutant sequence (underlined A), was used. The arrow indicates a band corresponding to normal DNA. The arrowhead indicates a MseI-digested band of a mutant DNA.M: size marker of DNA, lane 1: father of patient 1; lane 2: mother of patient 1; lane 3: elder brother of patient 1; lane 4: patient 1; lane 5: patient 2; lane 6–8: normal control.