人类严重联合免疫缺陷（SCID）：B细胞阴性（B-）SCID患者在JH基因座处表现出不规则的重组模式。
Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus.
作者信息
Schwarz K, Hansen-Hagge T E, Knobloch C, Friedrich W, Kleihauer E, Bartram C R
机构信息
Section of Molecular Biology, University of Ulm, Germany.
出版信息
J Exp Med. 1991 Nov 1;174(5):1039-48. doi: 10.1084/jem.174.5.1039.
Abstract
Human severe combined immunodeficiency (SCID) patients were analyzed by a polymerase chain reaction assay for their recombination capability at the DHQ52-JH region of the immunoglobulin heavy chain locus. Five patients with B cells (B+ SCID) exhibited a recombination pattern also observed in healthy persons. In contrast, six patients lacking B cells (B- SCID) showed a grossly altered rearrangement pattern characterized by the (partial) absence of regular DHQ52-JH recombinations and the presence of abnormal rearrangements. These events were caused by deletions surpassing the boundaries of immunoglobulin coding elements and thus resemble the pattern of deletional recombinations previously described in SCID mice.
摘要
采用聚合酶链反应分析人类重症联合免疫缺陷（SCID）患者免疫球蛋白重链基因座DHQ52-JH区域的重组能力。5例有B细胞的患者（B+ SCID）表现出与健康人相同的重组模式。相比之下，6例无B细胞的患者（B- SCID）则表现出明显改变的重排模式，其特征是（部分）缺乏正常的DHQ52-JH重组且存在异常重排。这些事件是由超过免疫球蛋白编码元件边界的缺失引起的，因此类似于先前在SCID小鼠中描述的缺失性重组模式。
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J Exp Med. 1991 Nov 1;174(5):1039-48. doi: 10.1084/jem.174.5.1039.
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