title: Real-time quantitative PCR analysis for alpha-thalassemia-1 of Southeast Asian type deletion in Taiwan.
abstract: Since homozygosity of the alpha-thalassemia-1 of Southeast Asian (SEA) type deletion results in hydrops fetalis, a novel protocol based on the real-time quantitating polymerase chain reaction (PCR) technique has been developed to quantify the intact and aberrant alpha-globin genes in adults. The ratio of the normal/SEA-bearing alpha-globin genes was expressed in cycle threshold (C(T)) values. Theoretically, a relative ratio of one to one was anticipated in individuals carrying the SEA type deletion. Twenty-five heterozygous and 20 normal cases were analyzed retrospectively with this protocol. Data showed that the CT values for the intact alpha-globin gene allele and the allele bearing the SEA type deletion in carriers were 28.74+/-1.49 and 26.46+/-2.05, respectively. Therefore, the ratio of normal/SEA type deletion-bearing alpha-globin genes in the carriers was 1.09+/-0.043. No ambiguous results were observed from other less common genotypes associated with alpha-thalassemia, such as the Philippine type deletion. Based on the results, we concluded that this protocol could provide a rapid method to mass screen carriers with alpha-thalassemia-1 of SEA type deletion in this region.
authors.affiliation: Department of Clinical Pathology, Chang Gung Memorial Hospital, Lin-Kou, Taiwan.
authors.forename: C F
authors.initials: CF
authors.lastname: Sun
authors.forename: C H
authors.initials: CH
authors.lastname: Lee
authors.forename: S W
authors.initials: SW
authors.lastname: Cheng
authors.forename: M H
authors.initials: MH
authors.lastname: Lin
authors.forename: T L
authors.initials: TL
authors.lastname: Wu
authors.forename: K C
authors.initials: KC
authors.lastname: Tsao
authors.forename: D T
authors.initials: DT
authors.lastname: Chiu
authors.forename: J D
authors.initials: JD
authors.lastname: Liou
authors.forename: D C
authors.initials: DC
authors.lastname: Chu
mesh_terms: D000483:Alleles; D001210:Asia, Southeastern / Q000453:epidemiology; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D005810:Multigene Family / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion / Q000235:genetics*; D013624:Taiwan; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins