title: Rapid antenatal diagnosis of beta-thalassemia in Chinese caused by the common 4-bp deletion in codons 41/42 using high-resolution agarose gel electrophoresis and heteroduplex detection.
abstract: The 4-bp deletion in codons 41/42 (-TTCT) in the beta-globin gene is a common mutation that causes beta-thalassemia in Chinese. A simple method, which involved PCR amplification of the relevant region, was used for the antenatal diagnosis of a fetus at risk for this mutation. The fetal PCR product showed a single fragment of normal size on MetaPhor gel. The homozygous normal status was further confirmed by the generation of heteroduplexes only after addition of homozygous mutant DNA.
authors.affiliation: Department of Pediatrics, Singapore General Hospital.
authors.forename: H Y
authors.initials: HY
authors.lastname: Law
authors.forename: J
authors.initials: J
authors.lastname: Ong
authors.forename: C S
authors.initials: CS
authors.lastname: Yoon
authors.forename: H
authors.initials: H
authors.lastname: Cheng
authors.forename: C L
authors.initials: CL
authors.lastname: Tan
authors.forename: I
authors.initials: I
authors.lastname: Ng
mesh_terms: D001483:Base Sequence; D002681:China; D003062:Codon; D004587:Electrophoresis, Agar Gel / Q000379:methods; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D009692:Nucleic Acid Heteroduplexes