The Molecular Genetic Assay of Progressive Familial Intrahepatic Cholestasis (PFIC)

• 作 者: RuizhuLin;LiLiu;ZhikunLu;HuiyingSheng;YiXu;YonglanHuang;XiuzhenLi;JingCheng;YannaCai;XiYin;HuifenMei;
• 机 构: The Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangz
• 出 处: 第十四次全国医学遗传学学术会议
• 发表日期: 2015年期

　　Progressive Familial Intrahepatic Cholestasis (PFIC)is regarded as a kind of rare genetic autosomal recessive disease that disrupts bile formation and presents with severe cholestasis of hepatocellular origin.The molecular mutational analysis was performed by PCR product sequencing for three types of PFIC gene in 6 different patients from unrelated families in south China area.We identified eleven different mutations, including five known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.R1057X, p.A588V and p.G1004D of ABCB11 gene mutations) and six novel mutations (p.Q794X and p.R470HfsX8 of ABCB11 gene mutations, p.T830NfsX11, p.A1047PfsX8, p.G319R and p.G1074R of ABCB4 gene mutations).All these six novel mutations were inherited from their parents of those patients.The results showed that compared with other regions, these three types of PFIC gene had different mutational spectrum in south China area.The abnormal mutations such as nonsense mutation, deletion or insertion mutation were associated with the severe phenotype of PFIC.