title: [Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area].
abstract: OBJECTIVE
  To ascertain whether the carrier rate is high in Quanzhou which is next to Taiwan in South of the Yangtze River.
  
  
  METHODS
  Population analysis of three SLC25A13 mutations, i.e. 851del4, 1638-1660 dup, and IVS6+ 5G to A was carried out in 450 healthy individuals. DNA diagnostic method of 851del4 was improved by using PCR-restriction fragment length polymorphism( PCR-RFLP) with restriction enzyme HpyCH4 IV, and the results were confirmed by GeneScan method.
  
  
  RESULTS
  Six carriers with 851del4, 3 with 1638-1660 dup and 3 with IVS6+ 5G to A was found.
  
  
  CONCLUSIONS
  The high carrier rate (0.027, 12/450) obtained from testing of only three mutations indicated that there must be a certain number of patients with citrin deficiency in Quanzhou, even in Fujian. Therefore, it is important for physicians in Quanzhou, Fujian province to learn about citrin deficiency, and to diagnose and treat the patients correctly.
authors.affiliation: The Second Clinical College, Fujian Medical University, Quanzhou, Fujian, P.R. China.
authors.forename: Hong-zhi
authors.initials: HZ
authors.lastname: Gao
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Li
authors.forename: Xiang-long
authors.initials: XL
authors.lastname: Zhuang
authors.forename: Kobayashi
authors.initials: K
authors.lastname: Keiko
authors.forename: Ushikai
authors.initials: U
authors.lastname: Miharu
authors.forename: Saheki
authors.initials: S
authors.lastname: Takeyori
authors.forename: Wei-peng
authors.initials: WP
authors.lastname: Hu
authors.forename: Chang-wen
authors.initials: CW
authors.lastname: Zhou
authors.forename: Ling
authors.initials: L
authors.lastname: Lin
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000172:deficiency; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D027361:Organic Anion Transporters / Q000172:deficiency; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D002135:Calcium-Binding Proteins; D033681:Mitochondrial Membrane Transport Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin