title: Rapid detection of α-thalassaemia alleles of --(SEA)/, -α(3.7)/ and -α(4.2)/ using a dual labelling, self-quenching hybridization probe/melting curve analysis.
abstract: OBJECTIVE
  The aim of the study was to set up an alternative automatic molecular diagnostic method for deletional α-thalassaemia mutations without gel electrophoresis.
  
  
  METHODS
  Based on the sequence variation within the two Z boxes and melting curve analysis of dually labelled probes, a real-time PCR assay was developed and validated for the rapid detection of major α-genotypes (--(SEA)/αα, --(SEA)/-α(3.7), --(SEA)/-α(4.2), --(SEA)/--(SEA), -α(3.7)/-α(3.7) and -α(4.2)/-α(4.2)).
  
  
  RESULTS
  Samples with the -α(3.7)/-α(3.7), -α(4.2)/-α(4.2), --(SEA)/αα, --(SEA)/-α(3.7), --(SEA)/-α(4.2), and --(SEA)/--(SEA) genotypes could be clearly distinguished. The accuracy of this technique for these samples was 100% sensitivity and specificity.
  
  
  CONCLUSIONS
  This technique is rapid and reliable, demonstrating feasibility for use in large-scale population screening and prenatal diagnosis of deletional Hb H disease and Hb Bart's hydrops fetalis.
authors.affiliation: Department of Clinical Laboratory, Henan Province People's Hospital, Zhengzhou, Henan, China.
authors.forename: Lan
authors.initials: L
authors.lastname: Gao
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Yanhui
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Manna
authors.initials: M
authors.lastname: Sun
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Rungui
authors.initials: R
authors.lastname: Xie
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: He
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Wanfang
authors.initials: W
authors.lastname: Xu
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Jianxin
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
authors.forename: Yangyang
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, Guangdong, China. Electronic address: loujiwu@163.com.
authors.forename: Jiwu
authors.initials: J
authors.lastname: Lou
mesh_terms: D000483:Alleles; D015342:DNA Probes / Q000032:analysis*; D005838:Genotype; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods; D012680:Sensitivity and Specificity; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015342:DNA Probes
keywords: Deletion; Dually labelled probes; Melting curve; α-Thalassaemia