Fig. 2.
Fig. 2. Screening of known mutations by PCR-RFLPs. / The locations of 3 known mutations in the XIIIB gene are indicated at the top. PCR-RFLP analyses were performed for 2 new patients (patient 4, P4; patient 5, P5), a normal control (C), and 2 previously identified patients (P1, P2): for the ag−(−)g mutation, a 1.8-kb amplified fragment was treated with TaqI; for the AAC insertion, a 430-bp amplified fragment withTru9I; for the Cys430-Phe mutation, a 155-bp amplified product with MboII. Each reaction mixture was electrophoresed in 1%, 2%, and 2% agarose gels, respectively. Patient 1 (P1) was a positive control for the ag−(−)g and Cys430-Phe mutations and patient 2 (P2) for the AAC insertion. Std indicates standard size markers (100-bp ladder). Two polymorphic sites (A/G27970 and TTTA repeats) at the 3′-flanking region of the XIIIBgene were also indicated by small filled circles.

Screening of known mutations by PCR-RFLPs.

The locations of 3 known mutations in the XIIIB gene are indicated at the top. PCR-RFLP analyses were performed for 2 new patients (patient 4, P4; patient 5, P5), a normal control (C), and 2 previously identified patients (P1, P2): for the ag−(−)g mutation, a 1.8-kb amplified fragment was treated with TaqI; for the AAC insertion, a 430-bp amplified fragment withTru9I; for the Cys430-Phe mutation, a 155-bp amplified product with MboII. Each reaction mixture was electrophoresed in 1%, 2%, and 2% agarose gels, respectively. Patient 1 (P1) was a positive control for the ag−(−)g and Cys430-Phe mutations and patient 2 (P2) for the AAC insertion. Std indicates standard size markers (100-bp ladder). Two polymorphic sites (A/G27970 and TTTA repeats) at the 3′-flanking region of the XIIIBgene were also indicated by small filled circles.

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