Detection of T cell receptor delta gene rearrangements in childhood B and T lineage acute lymphoblastic leukaemia by southern blot and PCR: technical comparison of two methods of analysis

作者：Valetto A^*; Di Martino D; Scuderi F; Lanza T; Lanciotti M; Bottini F; Dini G

来源：Clinical and Laboratory Haematology, 2000, 22(5): 263-269.

DOI：10.1046/j.1365-2257.2000.00317.x

• acute lymphoblastic leukaemia
• gene rearrangement
• T cell receptor
• minimal residual disease
• molecular biology

Molecular analysis of antigen receptor genes (Ig and TCR) has been useful for clonal studies in acute lymphoblastic leukaemia (ALL) patients. Rearrangements of these genes can be used to track the persistence of the leukaemic clone during the therapy. The purpose of our study was to analyse the percentage and the pattern of the rearrangements at the TCR D locus in a series of ALL patients, comparing the results obtained by Southern blot and PCR. Genomic DNA was extracted from mononuclear BM cells of 40 paediatric ALL cases, digested with different restriction enzymes and hybridized to TCRDJ1 probe to study the TCR delta locus. Amplification of the rearranged TCR delta genes was performed by PCR to define the gene segments involved. The junctional region was deduced from the sequence to obtain patient-specific primers. Among the 31 B lineage ALL samples, one or two TCR delta alleles proved to be rearranged in 53% of cases. Two different types of rearrangements were chiefly detected: V delta 2D delta3 and D delta 2D delta3. In T-ALL patients, the predominant rearrangement involved the V delta1 and the J delta1 gene segments.

• 出版日期2000-10