ABCB4基因外显子12和23突变与妊娠期肝内胆汁淤积症的关系

目的：探讨ABCB4基因外显子12和23的突变与妊娠期肝内胆汁淤积症（ICP）发病的关系。方法：从31例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和23，PCR产物经DNA序列测定检测突变情况。结果：31例ICP患者均扩增出ABCB4基因外显子12和23的靶基因片段，未见外显子12和23的缺失,DNA测序分析31例ICP患者ABCB4基因外显子12和23，未发现点突变。结论：ABCB4基因外显子12和23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的研究和其他外显子的筛查。

A study on the relationship between mutations in exons 12 and 23 of the ABCB4 gene and intrahepatic cholestasis of pregnancy

Objective To investigate the relationship between mutations in exons 12 and 23 of the ABCB4 gene and intrahepatic cholestasis of pregnancy (ICP). Methods Genomic DNA was extracted from the peripheral blood of 31 patients with ICP. Exons 12 and 23 of the ABCB4 gene were amplified using polymerase chain reaction (PCR). The PCR products were then sequenced to detect mutations. Results The target segments of exons 12 and 23 were amplified without any detectable deletion from all patients. No point mutation was identified by DNA sequence analysis on exons 12 and 23 of the ABCB4 gene. Conclusions There is little or no relationship between mutations in exons 12 and 23 of the ABCB4 gene and the development of ICP in the southern Anhui areas. Other mutation hotspots of the gene may exist. A further trial of larger sample size and screening for other exons should be conducted to investigate the relationship between the ABCB4 gene mutation and the occurrence of ICP in the Chinese population.