Ong P M, Lanyon W G, Hift R J, Halkett J, Moore M R, Mgone C S, Connor J M
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
Mol Cell Probes. 1996 Feb;10(1):57-61. doi: 10.1006/mcpr.1996.0008.
We have screened the hydroxymethylbilane synthase cDNA from six South African patients with acute intermittent porphyria, using a combination of chemical cleavage mismatch analysis and direct sequencing of asymmetrically amplified PCR products. Four mutations were detected, a novel T insertion (771insT) and three missense mutations (R26H, R116W and R173Q). The 771insT mutation produces a stop codon, thirty-three codons downstream and a loss of approximately 20% of the protein is predicted. The R116W mutation, which was found to have a high prevalence in the Dutch population, was detected in three unrelated South African patients.
我们使用化学切割错配分析和不对称扩增PCR产物直接测序相结合的方法，对6名南非急性间歇性卟啉症患者的羟甲基胆色素原合酶cDNA进行了筛选。检测到4个突变，一个新的T插入突变（771insT）和3个错义突变（R26H、R116W和R173Q）。771insT突变产生一个终止密码子，位于下游33个密码子处，预计会导致约20%的蛋白质缺失。在3名无亲缘关系的南非患者中检测到R116W突变，该突变在荷兰人群中具有较高的发生率。
