CHARACTERIZATION OF POLYMORPHISMS OF AN INTERLEUKIN-1 RECEPTOR-TYPE-1 GENE (IL1RI) PROMOTOR REGION (P2) AND THEIR RELATION TO INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM)
CHARACTERIZATION OF POLYMORPHISMS OF AN INTERLEUKIN-1 RECEPTOR-TYPE-1 GENE (IL1RI) PROMOTOR REGION (P2) AND THEIR RELATION TO INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM)
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DOI：
10.1006/cyto.1995.0086
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发表时间：
1995-10-01
期刊：
影响因子：
3.8
通讯作者：
POCIOT, F
中科院分区：
文献类型：
--
作者：
BERGHOLDT, R;KARLSEN, AE;POCIOT, F
我们已经确定了两个PstI多态性的白细胞介素1受体I型基因（IL 1 RI）。其中之一（RFLP-A）显示出与IDDM显著相关（P = 0.027），而RFLP-B在患者和对照组之间没有差异（p = 0.42）。将RFLP-A物理定位于该基因的5 'UTR。我们对RFLP-A周围推定启动子区（P2）的411 bp区域进行了测序和分析。RFLP-A是由于IL 1 RI基因外显子1B的C到T转换。这种单碱基突变不影响任何已知的转录因子识别序列或预测的二级mRNA结构，此外，我们还在一个以上的个体中发现了另外两个单碱基替换。这两个都没有表现出特定的疾病关联或与RFLP-A的绝对联系。(C)出版社：Academic Press Limited。
We have identified two PstI polymorphisms of the interleukin 1 receptor type I gene (IL1RI). One of these (RFLP-A) showed significant association to IDDM (P = 0.027), whereas no difference between patients and control subjects was found for RFLP-B (p = 0.42). RFLP-A was physically mapped to the 5'UTR of the gene. We sequenced and analysed a 411 bp region of a putative promotor region (P2) around RFLP-A. RFLP-A was due to a C to T transition in exon 1B of the IL1RI gene. This single-base mutation did not affect any known transcription factor recognition sequence or the predicted secondary mRNA structure, In addition, we found two other single-base substitutions in more than one individual. Neither of these showed specific disease association or absolute linkage with the RFLP-A. (C) 1995 Academic Press Limited.