Detection of α-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 α-thalassemia (α-thal) patients and 28 normal persons from Southern China, where the main causes of α-thal are three large deletions (−α^3.7, −α^4.2, and − −^SEA) and two point mutations in the α-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 α-thal in China.

Keywords:

• Multiplex ligation-dependent probe amplification (MLPA)
• α-Thalassemia (α-thal)
• Chinese
• Multiplex polymerase chain reaction (m-PCR)
• Real-time PCR

Notes

*The first two authors should be regarded as joint first authors.