title: [Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria].
abstract: OBJECTIVE
  To analyzed the role of genetic factors in pathogenesis of acute intermittent porphyria (AIP).
  
  
  METHODS
  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).
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Endocrinology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Xiao-Pei
authors.initials: XP
authors.lastname: Cao
authors.forename: Lei
authors.initials: L
authors.lastname: Su
authors.forename: Hai-Peng
authors.initials: HP
authors.lastname: Xiao
authors.forename: Yuan-Yuan
authors.initials: YY
authors.lastname: Liu
authors.forename: Yan-Bing
authors.initials: YB
authors.lastname: Li
authors.forename: Ling-Ling
authors.initials: LL
authors.lastname: Xiu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007438:Introns; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
chemical_list: D011163:Hydroxymethylbilane Synthase