Abstract
To analyzed the role of genetic factors in pathogenesis of acute intermittent porphyria (AIP). Peripheral blood sample was collected from a Chinese female AIP patients, aged 36, to undergo direct sequencing to analyze all the exons and flanking introns of the porphobilinogen deaminase (PBGD) and protoporphyrinogen oxidase (PPOX) genes. The sequencing results were compared with the established human PBGD and PPOX sequences (GenBank Accession No. M95623; NC_000001.9). Direct sequencing showed three kinds of single nucleotide polymorphism (SNP) in the PBGD gene. No mutation was found in the coding regions of either PBGD or PPOX gene. The three SNPs may underlie the genetic defects of AIP in Chinese. SNP may serve as genetic markers for linkage analysis to track presymptomatic carriers in AIP families.
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