Molecular Biology Reports

, Volume 39, Issue 6, pp 6591–6598 | Cite as

Hypermethylation of the gene LARP2 for noninvasive prenatal diagnosis of β-thalassemia based on DNA methylation profile

  • Tian Gao
  • Yanli Nie
  • Jianxin Guo


In order to identify epigenetic markers of β-thalassemia, a genome-wide profiling method named differential methylation hybridization was used to search these differentially methylated genes. Unsupervised hierarchical clustering and molecular annotation system were used to analyze the data, and methylation-specific PCR and real-time PCR were used to confirm the differentially methylated genes. This system was validated by detecting 13 cases, 10 of which were homo-zygous β-thalassaemia. Totally 113 genes were identified as methlyation-enriched genes (ratio ≥ 2.0, P < 0.05) and 96 genes were identified as hypomethylated genes in both groups (ratio ≤ 0.5, P < 0.05). The promoter of the gene of La ribonucleoprotein domain family (LARP2) was significantly hypermethylated in β-thalassemia, and the expression of LARP2 was significantly lower in β-thalassemia. Hypermethylation of the LARP2 promoter was correlated with its lower expression in β-thalassemia and our chip-based DNA methylation detection system can provide earlier diagnosis of β-thalassemia using this epigenetic marker.


β-Thalassemia LARP2 DNA methylation profile Bioinformatics DMH MAS 



This work is supported by National Nature Science Foundation (31001010) and Natural Science Foundation Project of CQ CSTC (cstcjjA10092).

Conflict of interest

These authors fully declare any financial or other potential conflict of interest.


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Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  1. 1.Department of Gynecology and Obstetrics, The First Affiliated HospitalChongqiang Medical UniversityChongqingChina
  2. 2.Department of Gynecology and ObstetricsInstitute of Surgery Research, Daping Hospital, Third Military Medical UniversityChongqingChina
  3. 3.School of Life SciencesBeijing Normal UniversityBeijingChina

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