Ben Salah Lynda, Belkhiria el Haj Amor Mouna, Chbili Chahra, Khlifi Saida, Fathallah Neila, Bougmiza Iheb, Ben Jazia Elhem, Houdret Nicole, Ben Salem Chaker, Saguem Saad
Metabolic Biophysics and Applied Toxicology Laboratory, Department of Biophysics, Faculty of Medicine of Sousse, Sousse University, Avenue Mohamed Karoui, 4002, Sousse, Tunisia,
Eur J Drug Metab Pharmacokinet. 2013 Dec;38(4):241-4. doi: 10.1007/s13318-013-0127-z. Epub 2013 Apr 4.
This study was conducted to investigate the thiopurine S-methyltransferase TPMT activity distribution and gene mutations in Tunisian population with positive diagnostic for Crohn's disease. TPMT activity was measured in Tunisian population (n = 88) by a high performance liquid chromatography assay. Polymerase chain reaction-based methods were used to determine the frequency of TPMT mutant alleles TPMT2, TPMT3A, TPMT3B and TPMT3C. TPMT activity was normally distributed, ranging from 4.58 to 35.27 nmol/(h ml) RBC with a mean of 18.67 ± 7.10 nmol/(h ml) RBC. Seven TPMT3A heterozygotes and one TPMT3C homozygote were found in 88 patients, with allele frequencies of 0.039 and 1.13, respectively. TPMT3A and the TPMT3C, which cause the largest decrease in enzyme activity, were both variant alleles detected in the Tunisian population.
本研究旨在调查突尼斯克罗恩病诊断呈阳性人群中的硫嘌呤S-甲基转移酶（TPMT）活性分布及基因突变情况。通过高效液相色谱法检测突尼斯人群（n = 88）的TPMT活性。采用基于聚合酶链反应的方法确定TPMT突变等位基因TPMT2、TPMT3A、TPMT3B和TPMT3C的频率。TPMT活性呈正态分布，范围为4.58至35.27 nmol/（h·ml）红细胞，平均为18.67±7.10 nmol/（h·ml）红细胞。在88例患者中发现7例TPMT3A杂合子和1例TPMT3C纯合子，等位基因频率分别为0.039和1.13。TPMT3A和TPMT3C导致酶活性最大程度降低，二者均为在突尼斯人群中检测到的变异等位基因。
