妊娠期肝内胆汁淤积症中ABCB4基因外显子23突变的研究

Relationship between the point mutation of ABCB4 gene exon 23 and intrahepatic cholestasis of pregnancy

目的:探讨ABCB4基因外显子23点突变与妊娠期肝内胆汁淤积症(ICP)发病的关系。方法:采用聚合酶链反应(PCR)方法对31例妊娠期肝内胆汁淤积症患者扩增ABCB4基因外显子23,PCR产物进行DNA序列测定,以检测突变情况。结果:31例妊娠期肝内胆汁淤积症患者的血样标本,均扩增出ABCB4基因的外显子23,未发现外显子23的缺失。随机挑选20例标本测定外显子23的DNA序列,未发现点突变。结论:ABCB4基因外显子23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基因点突变与ICP发病的相关性仍应进行更大样本量的研究及其他突变热点的筛查。

Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy （ICP）. Methods The ABCB4 gene exon 23 in 31 women with ICP were amplified using polymerase chain reaction （PCR）. The PCR products were further run for DNA sequencing so as to detect point mutation. Results The intergrated target band of ABCB4 gene exon 23 was found in all blood samples from 31 cases with ICP. Twenty cases （20/31） were selected randomly for DNA sequencing. No point mutation of ABCB4 gene exon 23 were detected. Conclusion The finding suggests that there is no or a little relationship between the ABCB4 exon 23 and the ICP patients in South Anhui province of China. The ICP patients in South Anhui province maybe have other mutation hot spots of ABCB4 gene. Therefor, it is needed to testify the relationship between the point mutation of ABCB4 gene and the pathogenesis of ICP by enlarging samples size and the screening of other mutation hot spots of ABCB4 gene