Ong P M, Lanyon W G, Moore M R, Connor J M
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
Mol Cell Probes. 1998 Apr;12(2):63-70. doi: 10.1006/mcpr.1997.0153.
The hydroxymethylbilane synthase (HMBS) mRNAs from 44 control individuals and 30 patients suffering from acute intermittent porphyria (AIP), were screened for length differences by reverse transcriptase polymerase chain reaction (RT-PCR) and any abnormalities were characterized by direct sequencing. Examination of the mRNAs extracted from the peripheral blood lymphocytes of the samples revealed varying degrees of alternative splicing, involving the removal of exons 3 and 12. Approximately 10-50% of the mRNA molecules were affected, despite the absence of genomic splice site mutations or any major deviance from consensus splice sequence values. The preliminary data obtained from this study suggest that this event is a normal occurrence in peripheral blood lymphocytes, and may not be associated with the molecular pathology responsible for AIP.
通过逆转录聚合酶链反应（RT-PCR）对44名对照个体和30名急性间歇性卟啉病（AIP）患者的羟甲基胆色素原合酶（HMBS）mRNA进行长度差异筛查，并通过直接测序对任何异常进行表征。对从样本外周血淋巴细胞中提取的mRNA进行检查，发现了不同程度的可变剪接，包括外显子3和12的缺失。尽管没有基因组剪接位点突变或与共有剪接序列值有任何重大偏差，但约10%-50%的mRNA分子受到影响。本研究获得的初步数据表明，这一事件在外周血淋巴细胞中是正常发生的，可能与导致AIP的分子病理学无关。
