Cao Xiao-Pei, Su Lei, Xiao Hai-Peng, Liu Yuan-Yuan, Li Yan-Bing, Xiu Ling-Ling
Department of Endocrinology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
Zhonghua Yi Xue Za Zhi. 2008 Sep 9;88(34):2414-6.
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.
分析遗传因素在急性间歇性卟啉病（AIP）发病机制中的作用。
采集一名36岁中国女性AIP患者的外周血样本，进行直接测序，以分析胆色素原脱氨酶（PBGD）和原卟啉原氧化酶（PPOX）基因的所有外显子和侧翼内含子。将测序结果与已建立的人类PBGD和PPOX序列（GenBank登录号：M95623；NC_000001.9）进行比较。
直接测序显示PBGD基因存在三种单核苷酸多态性（SNP）。PBGD或PPOX基因的编码区均未发现突变。
这三种SNP可能是中国人AIP遗传缺陷的基础。SNP可作为遗传标记用于连锁分析，以追踪AIP家族中的症状前携带者。
