Schneider-Yin X, Schäfer B W, Möhr P, Burg G, Minder E I
Zentrallabor, Stadtspital Triemli, Zürich, Switzerland.
Hum Genet. 1994 Jun;93(6):711-3. doi: 10.1007/BF00201578.
We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The first patient, who underwent liver transplantation because of terminal liver failure, was identified as having a single point mutation (C to T) at nucleotide 175 that resulted in a Gln to stop codon conversion in one allele of the gene. In the second case, in which the patient has so far no liver involvement, a two-base deletion (T899G900) was found in one allele. Frameshift as a result of the deletion creates a stop codon. This study presents two new genotypes of EPP, including one with liver failure, a rare and fatal form of EPP.
我们在两名患有红细胞生成性原卟啉症（EPP）的瑞士患者的亚铁螯合酶基因中发现了另外两个突变。通过聚合酶链反应（PCR）扩增患者的亚铁螯合酶cDNA，并直接或在亚克隆后对PCR产物进行测序以进行突变分析。第一名患者因终末期肝功能衰竭接受了肝移植，被鉴定为在核苷酸175处有一个单点突变（C到T），导致该基因的一个等位基因中的谷氨酰胺转换为终止密码子。在第二个病例中，患者目前尚无肝脏受累，在一个等位基因中发现了两个碱基的缺失（T899G900）。缺失导致的移码产生了一个终止密码子。本研究展示了两种新的EPP基因型，包括一种伴有肝功能衰竭的罕见且致命的EPP形式。
