Detection of four mutations in six unrelated South African patients with acute intermittent porphyria

作者：Ong PML^*; Lanyon WG; Hift RJ; Halkett J; Moore MR; Mgone CS; Conner JM

来源：Molecular and Cellular Probes, 1996, 10(1): 57-61.

DOI：10.1006/mcpr.1996.0008

• hydroxymethylbilane synthase
• South African
• acute intermittent porphyria
• CpG dinucleotides

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.

• 出版日期1996-2
• 单位河北医科大学