title: Rapid diagnosis of common deletional α-thalassemia in the Chinese population by qPCR based on identical primer homologous fragments.
abstract: OBJECTIVE
  In China, -(SEA), -α(3.7) and -α(4.2) are common deletional α-thalassemia alleles. Gap-PCR is the currently used detection method for these alleles, whose disadvantages include time-consuming procedure and increased potential for PCR product contamination. Therefore, this detection method needs to be improved. Based on identical-primer homologous fragments, a qPCR system was developed for deletional α-thalassemia genotyping, which was composed of a group of quantitatively-related primers and their corresponding probes plus two groups of qualitatively-related primers and their corresponding probes. In order to verify the accuracy of the qPCR system, known genotype samples and random samples are employed.
  
  
  RESULTS
  The standard curve result demonstrated that designed primers and probes all yielded good amplification efficiency. In the tests of known genotype samples and random samples, sample detection results were consistent with verification results.
  
  
  CONCLUSIONS
  In detecting αα, -(SEA), -α(3.7) and -α(4.2) alleles, deletional α-thalassemia alleles are accurately detected by this method. In addition, this method is provided with a wider detection range, greater speed and reduced PCR product contamination risk when compared with current common gap-PCR detection reagents.
authors.affiliation: Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Guangxi 535099, PR China. Electronic address: lab@longju.net.
authors.forename: Ju
authors.initials: J
authors.lastname: Long
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002138:Calibration; D017931:DNA Primers / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid; D013997:Time Factors; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D017931:DNA Primers
keywords: CNVs; Identical primer homologous fragments; Thalassemia; qPCR