中文摘要：

目的检测中国骨髓移植患者ABCB1基因型分布特征,探讨ABCB1基因多态性与中国骨髓移植患者服用环孢素A（CsA）所致肝损伤的相关性。方法中国骨髓移植患者112例,肝功正常73例,肝功异常39例（ALT〉80 U·L-1）。聚合酶链反应（PCR）后直接测序检测患者ABCB1基因各位点的基因型分布及等位基因频率;分析ABCB1基因多态性与CsA所致肝损伤的相关性。结果中国骨髓移植患者ABCB1 C1236T、G2677T/A、C3435T基因型分布均符合Hardy-Weinberg平衡。与肝功能正常患者比较,服用CsA致肝功异常患者ABCB13435C-T突变频率显著升高（P〈0.01）。结论 ABCB1 C3435T多态性与中国骨髓移植患者服用CsA所致肝损伤有关。

英文摘要：

Objective To determine the frequency distribution patterns of ABCB1 polymorphisms in Chinese bone marrow transplant recipients and explore the correlation between ABCB1 polymorphisms and the susceptibility of hepatic injury induced by cyclosporine A（CsA） in Chinese bone marrow transplant recipients.Methods There were 112 cases of Chinese bone marrow transplant recipients,73 cases with normal hepatic function and 39 cases with abnormal hepatic function（ALT 80 U.L-1）.Polymerase chain reaction-direct sequencing method was used to detect the genotype of ABCB1.Results The distribution of genotypes and genetic frequencies of ABCB1 C1236T,G2677T/A and C3435T were all in accordance with Hardy-Weinberg balances（P 0.05）.There was a significant difference in the distribution of genotype of ABCB1 C3435T between the patients of normal and abnormal hepatic function（P 0.01）.Conclusion The patients with 3435T allele of ABCB1 might be contributed to the susceptibility of hepatic injury induced by CsA.