[Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria].
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.
Cao
Xiao-Pei
XP
Department of Endocrinology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
Su
Lei
L
Xiao
Hai-Peng
HP
Liu
Yuan-Yuan
YY
Li
Yan-Bing
YB
Xiu
Ling-Ling
LL
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*
D011163:Hydroxymethylbilane Synthase