The Study Of Pax5Alteration In Acute Lymphoblastic Leukemia

Objective: The Pax5(paired box domain gene5，Pax5) is essential in normal B-celllymphopoiesis and deregulation of Pax5function is believed to contribute toleukemogenesis in B-ALL.We performed a study to screen the point mutations anddeletions of exons in adults patients with acute lymphoblastic leukemia (ALL), and to studythe relationship between their clinical characteristics such as the numeration ofleukocyte, hemoglobin and platelet count and the alteration.Methods:43newly diagnosed ALL patients were enrolled. Mononuclear cells wereisolated from their bone marrow aspirates, and then genomic DNA was extracted. Theexons from exon2to exon9of Pax5gene was amplified using polymerase chain reactionmethod; electrophoresis of the PCR products was performed and then followed by gelimaging and sequencing. Total RNA was isolated and cDNA was synthesized by randomhexamers and MMLV reverse transcriptase. Amplifed samples of exons1–10bypolymerase chain reaction method were also analyzed for deletions on an agarose gel,which were also confrmed by sequencing.The clinical characteristics of these ALL patientswere compared between the Pax5alteration patients and wild type patients.Results: The pax5mutation was detected in4(11.1%) of the36B-ALL patients, deletionof Pax5occurs in11(30.6%) of the36B-ALL cases. Compared with Pax5wild typepatients the pax5point mutation or deletion had no obvious correlation with thenumeration of leukocyte, hemoglobin, platelet count,percentage ofmyeloid progenitor cell, gender, age（P>0.05）.Conclusion: We found that the point mutation and deletion of Pax5was a common geneticalteration in B-ALL patients, suggesting its value as a molecular marker in diagnosis ormonitoring of B-ALL..