title: Rapid identification of the copy number of α-globin genes by capillary electrophoresis analysis.
abstract: OBJECTIVE
  The current study aimed at the rapid identification of the copy number of α-globin genes for the diagnosis of α-thalassemia.
  
  
  METHODS
  To identify the copy number of α-globin genes in α-thalassemia, we developed a novel method using a multiplex polymerase chain reaction (PCR) in combination with the CE analysis.
  
  
  RESULTS
  The proposed method provides a rapid detection of the common α-globin gene deletions. Sixty-six patients with α-thalassemia and 46 normal controls were included in the present study. The obtained results showed good correlation with those obtained by gap PCR. Moreover, a low amount of maternal cell contamination in the fetus specimen for the prenatal diagnosis of hemoglobin Barts hydrops fetalis as well as the rare multiplicated α-globin genes can be identified using this method.
  
  
  CONCLUSIONS
  This method provides a convenient and efficient tool for the rapid identification of the copy number of α-globin genes in α-thalassemia and the individuals with α-globin gene multiplication.
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Yu-Mei
authors.initials: YM
authors.lastname: Liao
authors.forename: Shu-Kai
authors.initials: SK
authors.lastname: Lin
authors.forename: Ta-Chih
authors.initials: TC
authors.lastname: Liu
authors.forename: Shyh-Shin
authors.initials: SS
authors.lastname: Chiou
authors.forename: Hsiu-Chin
authors.initials: HC
authors.lastname: Lu
authors.forename: Chi-Feng
authors.initials: CF
authors.lastname: Kao
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
mesh_terms: D001483:Base Sequence; D056915:DNA Copy Number Variations / Q000235:genetics; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D006442:Glycated Hemoglobin / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012689:Sequence Homology, Nucleic Acid; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006442:Glycated Hemoglobin; D006443:Hemoglobin A2; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C030448:hemoglobin Bart's