Dataset Information

Construction and Analysis of a Long Non-Coding RNA (lncRNA)-Associated ceRNA Network in ?-Thalassemia and Hereditary Persistence of Fetal Hemoglobin.

ABSTRACT: BACKGROUND Higher fetal hemoglobin (HbF) levels can ameliorate the clinical severity of ß-thalassemia. The use of integrative strategies to combine results from gene microarray expression profiling, experimental evidence, and bioinformatics helps reveal functional long noncoding RNAs (lncRNAs) in ß-thalassemia and HbF induction. MATERIAL AND METHODS In a previous study, a microarray profiling was performed of 7 individuals with high HbF levels and 7 normal individuals. Thirteen paired samples were used for validation. lncRNA NR_001589 and uc002fcj.1 were chosen for further research. The quantitative reverse transcription-PCR was used to detect the expression levels of 2 lncRNAs. The Spearman correlation test was employed. The nuclear and cytoplasmic distribution experiment in K562 cells was used to verify the subcellular localization of 2 lncRNAs. Potential relationships among lncRNAs, predicted microRNAs (miRNAs), and target gene HBG1/2 were based on competitive endogenous RNA theory and bioinformatics analysis. RESULTS Average expression levels of NR_001589 and uc002fcj.1 were significantly higher in the high-HbF group than in the control group. A positive correlation existed between NR_001589, uc002fcj.1, and HbF. The expression of NR_001589 was in both the cytoplasm and the nucleus, mostly (77%) in the cytoplasm. The expression of uc002fcj.1 was in both the cytoplasm and the nucleus; the cytoplasmic proportion was 43% of the total amount. A triple lncRNA-miRNA-mRNA network was established. CONCLUSIONS Novel candidate genetic factors associated with the HBG1/2 expression were identified. Further functional investigation of NR_001589 and uc002fcj.1 can help deepen the understanding of molecular mechanisms in ß-thalassemia.

SUBMITTER: Jia W

PROVIDER: S-EPMC6767942 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Publications

Construction and Analysis of a Long Non-Coding RNA (lncRNA)-Associated ceRNA Network in β-Thalassemia and Hereditary Persistence of Fetal Hemoglobin.

Jia Wenguang W Jia Siyuan S Chen Ping P He Yunyan Y

Medical science monitor : international medical journal of experimental and clinical research 20190921

BACKGROUND Higher fetal hemoglobin (HbF) levels can ameliorate the clinical severity of ß-thalassemia. The use of integrative strategies to combine results from gene microarray expression profiling, experimental evidence, and bioinformatics helps reveal functional long noncoding RNAs (lncRNAs) in ß-thalassemia and HbF induction. MATERIAL AND METHODS In a previous study, a microarray profiling was performed of 7 individuals with high HbF levels and 7 normal individuals. Thirteen paired samples we ...[more]

PMID: 31541070

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Project description:BACKGROUND:Individuals with ??-thalassemia/HPFH and ?-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/??-thalassemia in southern China has been reported to date. The purpose of this study was to examine the molecular epidemiology and hematologic characteristics of these disorders in Guangzhou, the largest city in Southern China, to offer advice for thalassemia screening programs and genetic counseling. METHODS:A total of 125,661 couples participated in pregestational thalassemia screening. 654 subjects with fetal hemoglobin (HbF) level???5% were selected for further investigation. Gap-PCR combined with Multiplex ligation dependent probe amplification (MLPA) was used to screen for ?-globin gene cluster deletions. Gene sequencing for the promoter region of HBG1 /HBG2 gene was performed for all those subjects. RESULTS:A total of 654 individuals had hemoglobin (HbF) levels?5, and 0.12% of the couples were found to be heterozygous for HPFH/??-thalassemia, including Chinese G? (A???)0-thal, Southeast Asia HPFH (SEA-HPFH), Taiwanese deletion and Hb Lepore-Boston-Washington. The highest prevalence was observed in the Huadu district and the lowest in the Nansha district. Three cases were identified as carrying ?-globin gene cluster deletions, which had not been previously reported. Two at-risk couples (0.0015%) were required to receive prenatal diagnosis. We also found 55cases of nondeletional-HPFH (nd-HPFH), including 54 with Italian nd-HPFH and one with the A?-197C-T heterozygous state. It is difficult to discriminate between Chinese G? (A???)0-thal and Italian nd-HPFH carriers using hemoglobin (Hb) analysis. CONCLUSIONS:This study is the first to describe the familial prevalence of HPFH/??-thalassemia and the high-risk rate in Greater Guangzhou Area, and the findings will support the implementation of thalassemia screening for three common deletions by gap-PCR. We also presented a systematic description of genotype-phenotype relationships which will be useful for genetic counseling and prenatal diagnostic services for ?-thalassemia intermedia.

Dataset Information

Construction and Analysis of a Long Non-Coding RNA (lncRNA)-Associated ceRNA Network in ?-Thalassemia and Hereditary Persistence of Fetal Hemoglobin.

Publications

Construction and Analysis of a Long Non-Coding RNA (lncRNA)-Associated ceRNA Network in β-Thalassemia and Hereditary Persistence of Fetal Hemoglobin.

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