上海地区汉族人巯基嘌呤甲基转移酶遗传多态性研究

The study on hereditary polymorphism of thiopurine S methyltransferase in Chinese Han population of Shanghai area

目的 了解中国上海地区汉族人巯基嘌呤甲基转移酶 (thiopurine S- methyltransferase,TPMT)的遗传多态性分布。方法 用同位素标记方法测定 32 0名健康志愿者与 5 1例急性淋巴细胞白血病(acute lymphoblastic leukemia,AL L)患儿的红细胞 TPMT活性。结果 371名受检者的平均 TPMT活性为 (16 .6 4± 4.5 0 ) U/ml p RBCs,其中低活性比例 8.1% ;男性和女性的平均 TPMT活性分别为 (16 .78±4.96 ) U/ml p RBCs和 (16 .5 2± 4.44 ) U/ml p RBCs;<12岁、13～ 18岁、19～ 45岁和 >45岁的 TPMT活性分别为 (16 .5 2± 4.31) U/ml p RBCs、(16 .71± 4.2 4) U/ml p RBCs、(16 .2 8± 5 .2 1) U/ml p RBCs和(17.11± 3.98) U/ml p RBCs;健康志愿者和 AL L 患儿的 TPMT活性分别为 (16 .6 5± 4.72 ) U/ml p RBCs和 (16 .5 2± 4.47) U /ml p RBCs。结论 汉族人 TPMT活性不存在性别、年龄差异 。

Objective To gain an insight into the hereditary polymorphism of thiopurine methyltransferase(TPMT) activity in Chinese Han population of Shanghai. Methods The present authors measured the erythrocyte TPMT activity in 320 healthy Chinese volunteers and 51 children with acute lymphoblastic leukemia(ALL) by means of radiochemical assay. Results The TPMT activity levels ranged from 4.32 to 32.33 U/ml pRBCs, with a mean value of (16.64±4.50) U/ml pRBCs, male (16.78±4.96) U/ml pRBCs, female (16.52±4.44) U/ml pRBCs. Eight point one percent of the sample had low activity. The TPMT activity levels for subjects who were <12 years, 13 18 years, 19 45 years and >45 years old were (16.52±4.31) U/ml pRBCs, (16.71±4.24) U/ml pRBCs, (16.28±5.21) U/ml pRBCs and (17.11±3.98) U/ml pRBCs, respectively; the TPMT activity levels for healthy volunteers and patients with ALL were (16.65±4.72) U/ml pRBCs and (16.52±4.47) U/ml pRBCs, respectively. Conclusion There were no differences of TPMT activity in gender, age, and between healthy volunteers and patients with ALL.