Molecular analysis of the t(1;12)(q21;p13). (A) RT-PCR detection of TEL-ARNT and ARNT-TEL fusion transcript. TEL-ARNT (TEL 3.1-ARNT P2: 523 bp) and ARNT-TEL (ARNT P1-TEL 5.1: 283 bp) fragments were PCR amplified starting from patient cDNA but not from control (HL60) cDNA. (B) Schematic of normal and fusion TEL and ARNT proteins. The fusion points are indicated by arrows. Identified protein domains are indicated. M1 and M43 mark the two in-frame AUGs of the TEL mRNA (23). Size of normal TEL protein is 452 amino acids and of normal ARNT, 789 amino acids. (C) Western blot analysis of normal and fusion TEL and ARNT proteins in the patient's cells. The expected proteins are indicated by an arrowhead: TEL, 60–50 kDa; ARNT, 86 kDa; TEL-ARNT, 102 kDa; ARNT-TEL, 36 kDa. Note that TEL is detected as several protein species because of alternative translation start sites and posttranslational modifications.