Susa S, Daimon M, Kondo H, Kondo M, Yamatani K, Sasaki H
The Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Am J Med Genet. 1998 Nov 16;80(3):204-6.
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain reaction-single strand conformational polymorphism and direct sequence analyses demonstrated a C to T substitution in exon 1 of the CPO gene at nucleotide position 85, which lies in the putative presequence for targeting to mitochondria. This mutation changes the codon for glutamine to a termination codon at amino acid position 29. MaeI restriction analysis showed two other carriers in the family. The C-T mutation is located within a recently proposed putative alternative translation initiation codon (TIC-1), supporting that TIC-1 is the real TIC rather than TIC-2.
遗传性粪卟啉原血症（HCP）是一种常染色体显性疾病，其特征是由于粪卟啉原氧化酶（CPO）基因发生突变导致该酶缺乏。在HCP患者中，该基因仅报道过11种突变。我们报告了一个日本家族中的另一种突变。聚合酶链反应-单链构象多态性和直接序列分析显示，CPO基因第1外显子中第85位核苷酸处发生了C到T的替换，该位置位于假定的线粒体靶向序列前体中。此突变使谷氨酰胺密码子在氨基酸位置29处变为终止密码子。MaeI限制性分析显示该家族中还有另外两名携带者。C-T突变位于最近提出的假定替代翻译起始密码子（TIC-1）内，支持TIC-1是真正的翻译起始密码子而非TIC-2。
