title: Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.
abstract: The multiplex ligation-dependent probe amplification (MLPA) method was used to analyze 118 DNA samples from 90 alpha-thalassemia (alpha-thal) patients and 28 normal persons from Southern China, where the main causes of alpha-thal are three large deletions (-alpha3.7, -alpha4.2, and --SEA) and two point mutations in the alpha-globin gene cluster on chromosome 16. The results, detected by the P140B HBA kit, were in complete concordance with the results detected by multiplex polmymerase chain reaction (m-PCR) and real-time PCR. The advantages and limitations of the techniques are discussed. We concluded that MLPA was a rapid and reliable method to determine the cause of both deletional and nondeletional alpha-thal in China.
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: Han
authors.initials: H
authors.lastname: Han
authors.forename: Jan P
authors.initials: JP
authors.lastname: Schouten
authors.forename: Li-Rong
authors.initials: LR
authors.lastname: Wang
authors.forename: Xin-Ping
authors.initials: XP
authors.lastname: Fan
authors.forename: Helena B
authors.initials: HB
authors.lastname: Duarte
authors.forename: Chun-Jiang
authors.initials: CJ
authors.lastname: Zhu
authors.forename: Ren
authors.initials: R
authors.lastname: Cai
authors.forename: Bai
authors.initials: B
authors.lastname: Xiao
authors.forename: Qing-Tao
authors.initials: QT
authors.lastname: Wang
mesh_terms: D002681:China; D019075:Electrophoresis, Capillary / Q000379:methods*; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D055542:alpha-Globins