title: Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis.
abstract: OBJECTIVE
  To establish the real time fluorescence polymerase chain reaction (RT-PCR) with dual labeled probes for fast detection of SLC25A13 gene mutation 851del4.
  
  
  METHODS
  Four hundred infants (< 1 year of age) with unexplained intrahepatic cholestasis from 18 provinces or municipalities in China were enrolled in this study for detecting their SLC25A13 gene mutation 851del4. Suitable primers and fluorescence-labeled probes for detecting SLC25A13 gene mutation 841del4 were designed. Normal and mutant sequences were detected by PCR with two fluorescence-labeled probes. After a single RT-PCR, results were obtained by analyzing the take-off curves. Twenty-four positive and 14 negative samples were retested by direct sequencing.
  
  
  RESULTS
  Eight homozygous and 30 heterozygous mutations were detected in 46 mutant alleles with a 851del4 mutation rate of 5.8% (46/800). Twenty-six and 20 mutant alleles were observed respectively, in 474 and 242 alleles from the intermediate and southern areas of China. No mutant allele was detected in 84 alleles from northern China. Twenty-four positive samples including 4 homozygous and 20 heterozygous mutations, and 14 negative samples were retested by direct sequencing, which confirmed that the accuracy of RT-PCR was 100%.
  
  
  CONCLUSIONS
  RT-PCR can detect the mutation 851del4 in infants with intrahepatic cholestasis with an accuracy of 100%.
authors.affiliation: Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, China.
authors.forename: Hai-Yan
authors.initials: HY
authors.lastname: Fu
authors.forename: Shao-Ren
authors.initials: SR
authors.lastname: Zhang
authors.forename: Hui
authors.initials: H
authors.lastname: Yu
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Wang
authors.forename: Qi-Rong
authors.initials: QR
authors.lastname: Zhu
authors.forename: Jian-She
authors.initials: JS
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D033681:Mitochondrial Membrane Transport Proteins; C119629:SLC25A13 protein, human
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