原卟啉原氧化酶：人类基因的完整基因组序列及多态性

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.

作者信息

Puy H, Robréau A M, Rosipal R, Nordmann Y, Deybach J C

机构信息

Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, Colombes, France.

出版信息

Biochem Biophys Res Commun. 1996 Sep 4;226(1):226-30. doi: 10.1006/bbrc.1996.1337.

DOI:10.1006/bbrc.1996.1337

PMID:8806618

Abstract

Variegate porphyria (VP) is an autosomal dominant disorder of heme synthesis caused by a partial deficiency of protoporphyrinogen oxidase (PPOX). Human cDNA encoding PPOX has been recently sequenced and the gene has been cloned, assigned to chromosome 1q23, and its exon/intron organization has been characterized. We report here the complete nucleotide sequence of the Human PPOX gene. Including 660 bp of its promotor region, the PPOX gene spans 5.5 kb. Introns vary in size from 84 bp to 507 bp. Two exonic and 3 intronic biallelic sequence variations have been characterized.

摘要

迟发性皮肤卟啉症（VP）是一种常染色体显性遗传性血红素合成障碍疾病，由原卟啉原氧化酶（PPOX）部分缺乏所致。最近已对编码PPOX的人类cDNA进行了测序，该基因已被克隆，定位于1q23染色体，其外显子/内含子结构也已明确。在此，我们报告人类PPOX基因的完整核苷酸序列。PPOX基因跨度为5.5kb，包括其启动子区域的660bp。内含子大小从84bp到507bp不等。已明确两个外显子和3个内含子的双等位基因序列变异。