Abnormalities in DNA rearrangements of immunoglobulin gene loci in precursor B cells derived from X-linked agammaglobulinemia patient and a severe combined immunodeficiency patient

Autor: Ikuya Tsuge, Jun-ichi Okada, Yoshikazu Ichihara, Hiroshi Matsuoka, Hisashi Yasui, Shinpei Torii, Yoshikazu Kurosawa
Rok vydání: 1988
Předmět:
Zdroj: Immunogenetics. 27:330-337
ISSN: 1432-1211
0093-7711
Popis: In an attempt to characterize the genes that cause immunodeficiencies such as X-linked agammaglobulinemia (XLA) and severe combined immunodeficiency (SCID) we established precursor B-cell lines by transforming the patients' bone marrow cells with Epstein-Barr viruses. DNA rearrangements of immunoglobulin JH gene loci were observed on both chromosomes in pre-B cells derived from an XLA patient. We cloned and characterized both rearranged bands from one cell line. Both of the rearrangements occurred between D H and J H gene loci without the VH DH structure. On the other hand, JH gene loci retained the germline configuration on both chromosomes in almost all the transformants derived from a SCID patient that had been determined according to their surface markers, to be in an early precursor B-cell stage. The implications of the observations are discussed.
Databáze: OpenAIRE