妊娠期肝内胆汁淤积症中ABCB4基因外显子12突变的研究

Relationship between the mutation of ABCB4 gene exon 12 and intrahepatic cholestasis of pregnancy.

目的探讨ABCB4基因外显子12的突变与妊娠期肝内胆汁淤积症(ICP)发病的关系。方法从31名ICP患者外周血标本中提取出基因组DNA,聚合酶链反应(PCR)扩增ABCB4基因外显子12,PCR产物经DNA序列测定检测突变情况。结果31名ICP患者均扩增出ABCB4基因外显子12的靶基因片断,未见外显子12的缺失,随机挑选20例标本测定外显子12的DNA序列,未发现突变。结论ABCB4基因外显子12的突变与中国皖南地区的ICP发生无关或关联很小,皖南地区ICP患者中可能存在其他的ABCB4基因突变热点。ABCB4基因的突变与中国人ICP发病的相关性仍应进行更大样本量的研究和更多外显子的筛查。

To investigate the relationship between the mutation of ABCB4 gene exon 12 and intrahepatic cholestasis of pregnancy （ICP）. Methods： Genomic DNA was extracted from peripheral blood of 31 ICP patients. Using polymerase chain reaction （PCR）, the ABCB4 gene exon 12 was amplified. The PCR products were then sequenced as to detect the mutation. Results： The target band of ABCB4 gene exon 12 were found in all 31 cases with ICP. No deletion were detected. 20 patients were selected randomly from 31 ICP patients for DNA sequencing. No mutations of ABCB4 gene exon 12 were identified. Conclusion： The finding suggests that there are no or little relations between the mutation of ABCB4 gene exon 12 and the ICP patients in South Anhui province of China. Other mutation hot spots of ABCB4 gene may exit. Further enlargement of sample size and investigation of other ABCB4 gene mutation hot spots are needed to testify the relationship between the mutation of ABCB4 gene and the pathogenesis of ICP.