Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.
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.
Liu
Jing-Zhong
JZ
Basic Medical Research Center, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China. liujingzhong@hotmail.com
Han
Han
H
Schouten
Jan P
JP
Wang
Li-Rong
LR
Fan
Xin-Ping
XP
Duarte
Helena B
HB
Zhu
Chun-Jiang
CJ
Cai
Ren
R
Xiao
Bai
B
Wang
Qing-Tao
QT
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
D055542:alpha-Globins