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ragl或rag2基因的错义突变可使其编码的重组酶活性部分受损,导致V(D)J重组发生倾向于产生单克隆的活化Th2的改变,结果引起一类严重的联合免疫缺陷综合征(SCID),称为Omenn syndrome(OS)。OS的准确诊断有赖于RAGs基因的直接测序分析,它也是目前在SCID和OS家族中调查胎儿是否受其遗传影响的最有效方法。RAGs基因编码的重组酶催化V(D)J基因重排时,发生的错误识别可导致抗原受体基因和癌基因染色体易位,是淋巴系统恶性肿瘤发生的重要因素。RAGs还可能与自身免疫性疾病等有关。
Missense mutations of the ragl or rag2 genes can partially impair the activity of the recombinase enzyme they encode, resulting in a reorganization of V (D) J that tends to result in a monoclonal activated Th2 change that results in a type of severe combined immunodeficiency syndrome (SCID), known as Omenn syndrome (OS). The accurate diagnosis of OS relies on direct sequencing analysis of RAGs genes and it is also the most effective way to investigate whether fetuses are affected by their inheritance in the SCID and OS families. The misrecognition that occurs when the recombinase encoded by RAGs encodes the V (D) J gene rearrangement leads to the chromosomal translocation of antigen receptor genes and oncogenes, which is an important factor in the development of lymphoid malignancies. RAGs may also be related to autoimmune diseases.