成都地区妊娠期肝内胆汁淤积症与人类白细胞抗原-DQA1的相关性研究

目的探讨妊娠期肝内胆汁淤积症（intrahepatic cholestasis of pregnancy, ICP）与人类白细胞抗原-DQA1（human leukocyte antigen-DQA1, HLA-DQA1）位点等位基因多态性的关系。方法采用聚合酶链反应-序列特异性引物法（polymerase chain reaction with sequence-specific primer, PCR-SSP）对成都地区45例ICP孕妇、18个ICP家庭、45名正常妊娠孕妇及18个正常对照家庭进行HLA-DQA1等位基因分型分析。结果ICP组孕妇HLA-DQA1＊0301等位基因频率明显低于正常对照组孕妇，除此之外，HLA-DQA1其余各等位基因的基因频率在正常对照组和ICP组之间差异无统计学意义。两组夫妇及母胎HLA-DQA1等位基因共享比较亦无统计学意义。结论成都地区人群中HLA-DQA1各等位基因与ICP的发生无明显相关性；HLA-DQA1＊0301等位基因可能是ICP的遗传保护基因，对疾病的发生可能有拮抗作用。

Association of genetic polymorphisms in human leukocyte antigen-DQA1 with intrahepatic cholestasis of pregnancy in Chengdu district

Objective To explore the relationship between human leukocyte antigen-DQA1 (HLA-DQA1) allele gene polymorphism and intrahepatic cholestasis of pregnancy (ICP). Methods Forty-five patients with ICP, eighteen ICP families, forty-five normal pregnant women and eighteen normal control families were tested for HLA-DQA1 allele gene polymorphism by polymerase chain reaction with sequence-specific primer (PCR-SSP) method. [WTHZ]Results The frequency of HLA-DQA1*0301 in normal pregnant women was markedly higher than that in the ICP group (P>0.05). No significant differences were observed between the frequencies of other detected HLA-DQA1 alleles in both groups. The analysis of feto-maternal or couples sharing of the HLA-DQA1 alleles showed that no significant differences were observed between the two groups. Conclusion The above findings suggest that there is no significant association between the genetic polymorphisms in HLA-DQA1 and ICP in Chengdu district; HLA-DQA1*0301 may be a protective gene against ICP. It may prevent the development of ICP.