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Changes in lncRNAs and related genes in β-thalassemia minor and β-thalassemia major |
Jing Ma1,2,Fei Liu2,Xin Du3,Duan Ma2(),Likuan Xiong1() |
1. Central Laboratory, Bao’an Maternal and Children Health Hospital, Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Shenzhen 518000, China 2. Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Institute of Medical Sciences, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China 3. Department of Hematology, The Second People’s Hospital, Shenzhen 518035, China |
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Abstract β-thalassemia is caused by β-globin gene mutations. However, heterogeneous phenotypes were found in individuals with same genotype, and still undescribed mechanism underlies such variation. We collected blood samples from 30 β-thalassemia major, 30 β-thalassemia minor patients, and 30 matched normal controls. Human lncRNA Array v2.0 (8 × 60 K, Arraystar) was used to detect changes in long non-coding RNAs (lncRNAs) and mRNAs in three samples each from β-thalassemia major, β-thalassemia minor, and control groups. Compared with normal controls, 1424 and 2045 lncRNAs were up- and downregulated, respectively, in β-thalassemia major patients, whereas 623 and 349 lncRNAs were up- and downregulated, respectively, in β-thalassemia minor patients. Compared with β-thalassemia minor group, 1367 and 2356 lncRNAs were up- and downregulated, respectively, in β-thalassemia major group. We selected five lncRNAs that displayed altered expressions (DQ583499, X-inactive specific transcript (Xist), lincRNA-TPM1, MRFS16P, and lincRNA-RUNX2-2) and confirmed their expression levels in all samples using real-time polymerase chain reaction. Based on coding-non-coding gene co-expression network and gene ontology biological process analyses, several signaling pathways were associated with three common organ systems exhibiting β-thalassemia phenotypes: hematologic, skeletal, and hepatic systems. This study implicates that abnormal expression levels of lncRNAs and mRNA in β-thalassemia cases may be correlated with its various clinical phenotypes.
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Keywords
β-thalassemia
long non-coding RNA
mRNA
phenotypic heterogeneity
pathway
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Corresponding Author(s):
Duan Ma,Likuan Xiong
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Just Accepted Date: 20 January 2017
Online First Date: 24 February 2017
Issue Date: 20 March 2017
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