title: Molecular prenatal diagnosis of alpha-thalassemia using real-time and multiplex polymerase chain reaction methods.
abstract: Molecular analysis of two fetuses at high risk of alpha-thalassemia (alpha-thal), and their family members, was performed using real-time polymerase chain reaction (PCR) with SYBR Green 1 (SYBR-PCR) dye combined with dissociation curve analysis and multiplex PCR (m-PCR) and DNA sequencing techniques. The genotype of the fetus from one family was --SEA/--SEA (Southeast Asian deletion), which produces hydrops fetalis syndrome. The genotype of the parents was --SEA/alphaalpha. A boy with Hb H disease and his sibling fetus from the other family had the genotype --SEA/alphaCSalpha [the Hb Constant Spring (CS) mutation: alpha142, Term-->Gln (TAA>CAA in alpha2)] and alphaalpha/alphaalpha (normal), respectively. The diagnosis, based on SYBR-PCR combined with dissociation curve analysis, was in agreement with the results from the m-PCR method. This indicates that these are alternative and reliable assays for the molecular diagnosis of deletional alpha-thal.
authors.affiliation: Basic Medical Research Center, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China. liujingzhong@hotmail.com
authors.forename: Jing-Zhong
authors.initials: JZ
authors.lastname: Liu
authors.forename: Mei
authors.initials: M
authors.lastname: Yan
authors.forename: Li-Rong
authors.initials: LR
authors.lastname: Wang
authors.forename: Zhan-Yong
authors.initials: ZY
authors.lastname: Wang
authors.forename: Yin-Ping
authors.initials: YP
authors.lastname: Fan
authors.forename: Bai
authors.initials: B
authors.lastname: Xiao
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D005333:Fetus / Q000473:pathology; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D008297:Male; D010290:Parents; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics