Analysis of Abnormal DNA Rearrangement of Ig Heavy Chain Gene Loci in Precursor B Cell Lines Derived From Primary Immunodeficiency Patients

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1). EB virus transformed (precursor) B cell lines (139 cell lines) were established from 8 Severe Combined immunodeficiency (SCID) patients, one X-linked agammaglobulinemia (XLA) patient and 8 common variable immunodeficiency (CVID) patients.2). Fourteen of 139 cell lines had precursor B cell phenotypes, shown by immunofluorescent technique.3). The study of DNA rearrangements of Ig heavy chain gene loci in these B cell lines showed a defect of DJ-VDJ rearrangement in one XLA and one CVID patient, and showed a defect of DJ rearrangement in SCID patient.4). RAG-1 mRNA was detected in SCID 86730 cell clone, which had DJ rearrangement defect suggesting of the abnormal recombinase system, by using RT-PCR method.5). Recombinant vectors consisted of signal sequences, 12/23 spacer, Neo gene (inverted), HygroB gene and SRalpha promoter were constructed and used to measure recombinase activities of these B cell lines.