|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
11
|
|
pubmed:dateCreated |
1994-6-21
|
|
pubmed:databankReference |
|
|
pubmed:abstractText |
We investigated the patterns of DNA rearrangements at loci for Ig JH genes in patients with severe combined immunodeficiency (SCID). Four SCID patients without B cells (B- SCID) and four SCID patients with B cells (B+ SCID) were examined. Bone marrow cells of these patients were transformed with EBV. The majority of the transformed cells from three B- SCID patients had the germline configuration at their JH gene loci. The rearranged fragments from one patient were analyzed extensively. The rearranged regions in all of the fragments had a common structure wherein two fragments derived from the JH-S mu region were connected inversely. The possible presence of rearranged forms of VHDJH and DHQ52JH sequences in bone marrow cells of two B- SCID patients were examined directly by the polymerase chain reaction (PCR) method. In one patient, we found neither a VHDJH sequence nor a DHQ52JH sequence within the range of sensitivity of the PCR method. In another patient, we found a VHDJH sequence at an extremely low level and DHQ52JH sequences at a relatively low level. Either RAG-1 or RAG-2 gene was not expressed in the B- SCID-derived cell lines. B+ SCID patients did not show any abnormalities in terms of VHDJH rearrangements. These results indicate that B- SCID may be caused by defects in factors involved in V(D)J rearrangements.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0022-1767
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
1
|
|
pubmed:volume |
152
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
5504-13
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:8189068-Base Sequence,
pubmed-meshheading:8189068-Cell Line,
pubmed-meshheading:8189068-Cell Line, Transformed,
pubmed-meshheading:8189068-DNA-Binding Proteins,
pubmed-meshheading:8189068-Female,
pubmed-meshheading:8189068-Gene Rearrangement,
pubmed-meshheading:8189068-Genes, Immunoglobulin,
pubmed-meshheading:8189068-Homeodomain Proteins,
pubmed-meshheading:8189068-Humans,
pubmed-meshheading:8189068-Immunoglobulin Joining Region,
pubmed-meshheading:8189068-Immunoglobulin Variable Region,
pubmed-meshheading:8189068-Infant,
pubmed-meshheading:8189068-Male,
pubmed-meshheading:8189068-Molecular Sequence Data,
pubmed-meshheading:8189068-Nuclear Proteins,
pubmed-meshheading:8189068-Polymerase Chain Reaction,
pubmed-meshheading:8189068-Proteins,
pubmed-meshheading:8189068-Severe Combined Immunodeficiency
|
|
pubmed:year |
1994
|
|
pubmed:articleTitle |
Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency.
|
|
pubmed:affiliation |
Department of Pediatrics, Nagoya University School of Medicine, Aichi, Japan.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
