Characterization of a novel nonsense mutation in the interleukin-7 receptor α gene in a Korean patient with severe combined immunodeficiency
Characterization of a novel nonsense mutation in the interleukin-7 receptor α gene in a Korean patient with severe combined immunodeficiency
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DOI：
10.1532/ijh97.04026
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发表时间：
2004-11-01
影响因子：
2.1
通讯作者：
Kumaki, S
中科院分区：
文献类型：
--
作者：
Jo, EK;Kook, H;Kumaki, S
尽管有研究表明，白细胞介素7受体（IL-7R）信号缺陷是小鼠和人类严重联合免疫缺陷病（SCID）的主要原因之一，但对人类IL-7R α突变的分子和临床特征知之甚少。我们报告了一种新的il - 7rα基因突变在韩国SCID患者的t细胞计数大大减少，但正常数量的b细胞和自然杀伤（NK）细胞。通过直接测序和限制性片段长度多态性分析，我们在638号位置发现了一个C- >T核苷酸变化。这一变化导致该患者出现无义突变（R206stop）。双亲在此位点为C/T杂合。本研究的结果强调了在t细胞数量减少但b细胞和NK细胞数量正常的SCID患者中il - 7rα突变特征的重要性。(C) 2004日本血液病学会。
Although it has been suggested that defective interleukin 7 receptor (IL-7R) signaling is one of the principal causes of severe combined immunodeficiency disease (SCID) in mice and humans, little is known about the molecular and clinical characteristics of human IL-7Ralpha mutations. We report a novel mutation of the IL-7Ralpha gene in a Korean SCID patient with a greatly diminished T-cell count but normal numbers of B-cells and natural killer (NK) cells. Using direct sequencing and restriction fragment length polymorphism analysis, we identified a C-->T nucleotide change at position 638. This change resulted in a nonsense mutation (R206stop) in this patient. Both parents were heterozygous for C/T at this site. The results of this study emphasize the importance of characterization of IL-7Ralpha mutations in SCID patients with diminished T-cell numbers but normal numbers of B-cells and NK cells. (C) 2004 The Japanese Society of Hematology.