title: [Genetic diagnosis of thalassemia mutations with free fetal DNA in pregnant plasma].
abstract: This research was aimed to develop a simple, rapid, accurate and non-invasive method by means of flow-through hybridization technology, which can be used for molecular screening and early prenatal diagnosis for detecting common β-thalassemias mutational genotypes. By using PCR technology combined with flow-through hybridization of low-density gene chip technology, the 6 sets of PCR primer single tube multiplex PCR system and 29 types of DNA probes were designed, then the mutational thalassemias in foetus DNA was rapidly detected in total of 60 anaemia pregnant women plasma. The results showed that 4 cases with deletional α-thalassemias, 3 cases with β-thalassemias, 1 case with mixed type of α & β-thalassemias were detected in foetus DNA of 60 pregnant women plasmas. It is concluded that the method presented in this study is easy to handle, rapid, reliable and cost-effective for detecting 3 common deletional α-thalassemias and 17 common mutational β-thalassemia.
authors.affiliation: Department of Medical Laboratorial Examination, Second Affiliated Hospital of Fujian Medical University, Quanzhou 362000, Fujian Province, China.
authors.forename: Xiao-Rong
authors.initials: XR
authors.lastname: Lin
authors.forename: Liu-Xia
authors.initials: LX
authors.lastname: You
authors.forename: Yong
authors.initials: Y
authors.lastname: Chen
mesh_terms: D000328:Adult; D004247:DNA / Q000097:blood*; D015342:DNA Probes; D005260:Female; D005333:Fetus; D006801:Humans; D009154:Mutation; D010949:Plasma; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D013789:Thalassemia / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics
chemical_list: D015342:DNA Probes; D004247:DNA