Displaying publications 1 - 20 of 28 in total

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  1. Xu J, Jiang H, Li J, Cheng KK, Dong J, Chen Z
    PLoS One, 2015;10(4):e0119654.
    PMID: 25849323 DOI: 10.1371/journal.pone.0119654
    Wilson's disease (WD), also known as hepatoleticular degeneration (HLD), is a rare autosomal recessive genetic disorder of copper metabolism, which causes copper to accumulate in body tissues. In this study, rats fed with copper-laden diet are used to render the clinical manifestations of WD, and their copper toxicity-induced organ lesions are studied. To investigate metabolic behaviors of 'decoppering' process, penicillamine (PA) was used for treating copper-laden rats as this chelating agent could eliminate excess copper through the urine. To date, there has been limited metabolomics study on WD, while metabolic impacts of copper accumulation and PA administration have yet to be established.
  2. Lu RS, Asada K, Krichbaum TP, Park J, Tazaki F, Pu HY, et al.
    Nature, 2023 Apr;616(7958):686-690.
    PMID: 37100940 DOI: 10.1038/s41586-023-05843-w
    The nearby radio galaxy M87 is a prime target for studying black hole accretion and jet formation1,2. Event Horizon Telescope observations of M87 in 2017, at a wavelength of 1.3 mm, revealed a ring-like structure, which was interpreted as gravitationally lensed emission around a central black hole3. Here we report images of M87 obtained in 2018, at a wavelength of 3.5 mm, showing that the compact radio core is spatially resolved. High-resolution imaging shows a ring-like structure of [Formula: see text] Schwarzschild radii in diameter, approximately 50% larger than that seen at 1.3 mm. The outer edge at 3.5 mm is also larger than that at 1.3 mm. This larger and thicker ring indicates a substantial contribution from the accretion flow with absorption effects, in addition to the gravitationally lensed ring-like emission. The images show that the edge-brightened jet connects to the accretion flow of the black hole. Close to the black hole, the emission profile of the jet-launching region is wider than the expected profile of a black-hole-driven jet, suggesting the possible presence of a wind associated with the accretion flow.
  3. Yang R, Zhou Z, Jiang H, Kam TS, Chen K, Ma Z
    Angew Chem Int Ed Engl, 2024 Jan 15;63(3):e202316016.
    PMID: 38038685 DOI: 10.1002/anie.202316016
    The first asymmetric total synthesis of the monoterpenoid indole alkaloid arboduridine has been accomplished. The tricyclic A/B/D ring system was constructed by an enantioselective Michael reaction followed by intramolecular nucleophilic addition. Intramolecular α-amination of a ketone forged the piperidine ring, while a Horner-Wadsworth-Emmons (HWE) reaction was used to form the pyrrolidine ring. A reduction cyclization cascade led to formation of the tetrahydrofuran ring.
  4. Zhang J, Chu R, Chen Y, Jiang H, Zeng Y, Zhang Y, et al.
    Nanotechnology, 2018 Dec 20.
    PMID: 30572323 DOI: 10.1088/1361-6528/aafa25
    Carbon-coated nickel cobaltate on nickel foam (C@NCO@NF) with stable pseudocapacitive lithium storage capacity was prepared via a two-step strategy. NiCo hydroxide were initially grown on Ni foam via electrodeposition. Subsequent glucose soaking and annealing converted the intermediate into C@NCO@NF. Carbon coating could significantly improve cycling stability and rate performance of the binder-free anode. The C@NCO@NF electrode could stably deliver a reversible capacity of 513 mAh∙g-1 after 500 cycles at a current density of 500 mA∙g-1. It could even stably cycle at a high current density of 5000 mA∙g-1 for 3000 times, with a reversible capacity of 115 mAh∙g-1. Kinetic analysis revealed that surface-controlled pseudo-capacitance play a dominate role in the lithium ion storage. Improved electrochemical performance is attributed to the synergetic effect of pseudo-capacitance and carbon coating.
  5. Ren D, Jiang H, Cheng J, Peng C, Zou Y
    Heliyon, 2023 Sep;9(9):e19200.
    PMID: 37662732 DOI: 10.1016/j.heliyon.2023.e19200
    Building on the upper echelons theory and demographic faultline theory, this paper investigates the role of the top management team (TMT) faultline as a mediator and explores the moderating effect of CEO power as an important contextual factor. We utilize a sample of A-share listed companies on the Shanghai and Shenzhen Stock Exchanges from 2009 to 2020. Our findings show that outside CEO successors are significantly and positively related to corporate strategic change. TMT faultline mediates the effect of CEO successor origins on corporate strategic change, while CEO power reinforces the relationship between the two. Heterogeneity tests reveal that the effect of outside CEO successors on strategic change is insignificant in state-owned enterprises (SOEs) but has a significant impact on firms at their growth and maturity stages. Furthermore, our findings suggest that outside CEO successors inhibit the positive role of strategic change in promoting firm value.
  6. Lin Y, Hu J, Li S, Hamzah SS, Jiang H, Zhou A, et al.
    Molecules, 2019 Jun 27;24(13).
    PMID: 31252525 DOI: 10.3390/molecules24132374
    Fresh-cut fruits and vegetables are the main sources of foodborne illness outbreaks with implicated pathogens such as Escherichia coli O157:H7, Salmonella, and Listeria monocytogenes. This study aimed at investigating the influence of two key parameters (concentration of curcumin and illumination time) on the effects of curcumin-based photodynamic sterilization on the preservation of fresh-cut Hami melons. The results indicated that illumination with 50 μmol/L curcumin for 60 min using a blue LED lamp reduced the total aerobic microorganism count by ~1.8 log CFU/g in fresh-cut Hami melons. Besides this, the effects of photodynamic sterilization on the soluble solids content, color, water content, firmness, and sensory indices of the fresh-cut Hami melons were also evaluated. Compared to the control group, photodynamic sterilization can effectively delay the browning rate and maintain the luminosity, firmness, water content, and soluble solids content of fresh-cut Hami melon. The sensory quality was indeed preserved well after 9 days of storage in a fridge. These results showed that photodynamic sterilization is an effective and promising technology to prolong the shelf life of fresh-cut Hami melons.
  7. Jiang H, Bai L, Ji L, Bai Z, Su J, Qin T, et al.
    J Virol, 2020 07 16;94(15).
    PMID: 32461319 DOI: 10.1128/JVI.00294-20
    Japanese encephalitis virus (JEV) infection alters microRNA (miRNA) expression in the central nervous system (CNS). However, the mechanism contributing to miRNA regulation in the CNS is not known. We discovered global degradation of mature miRNA in mouse brains and neuroblastoma (NA) cells after JEV infection. Integrative analysis of miRNAs and mRNAs suggested that several significantly downregulated miRNAs and their targeted mRNAs were clustered into an inflammation pathway. Transfection with miRNA 466d-3p (miR-466d-3p) decreased interleukin-1β (IL-1β) expression and inhibited JEV replication in NA cells. However, miR-466d-3p expression increased after JEV infection in the presence of cycloheximide, indicating that viral protein expression reduced miR-466d-3p expression. We generated all the JEV coding proteins and demonstrated NS3 helicase protein to be a potent miRNA suppressor. The NS3 proteins of Zika virus, West Nile virus, and dengue virus serotype 1 (DENV-1) and DENV-2 also decreased miR-466d-3p expression. Results from helicase-blocking assays and in vitro unwinding assays demonstrated that NS3 could unwind pre-miR-466d and induce miRNA dysfunction. Computational models and an RNA immunoprecipitation assay revealed arginine-rich domains of NS3 to be crucial for pre-miRNA binding and degradation of host miRNAs. Importantly, site-directed mutagenesis of conserved residues in NS3 revealed that R226G and R202W reduced the binding affinity and degradation of pre-miR-466d. These results expand the function of flavivirus helicases beyond unwinding duplex RNA to degrade pre-miRNAs. Hence, we revealed a new mechanism for NS3 in regulating miRNA pathways and promoting neuroinflammation.IMPORTANCE Host miRNAs have been reported to regulate JEV-induced inflammation in the CNS. We found that JEV infection could reduce expression of host miRNA. The helicase region of the NS3 protein bound specifically to miRNA precursors and could lead to incorrect unwinding of miRNA precursors, thereby reducing the expression of mature miRNAs. This observation led to two major findings. First, our results suggested that JEV NS3 protein induced miR-466d-3p degradation, which promoted IL-1β expression and JEV replication. Second, arginine molecules on NS3 were the main miRNA-binding sites, because we demonstrated that miRNA degradation was abolished if arginines at R226 and R202 were mutated. Our study provides new insights into the molecular mechanism of JEV and reveals several amino acid sites that could be mutated for a JEV vaccine.
  8. Wang C, Pang Y, Wu Y, Zhang N, Yang R, Li Y, et al.
    Angew Chem Int Ed Engl, 2021 12 20;60(52):26978-26985.
    PMID: 34665909 DOI: 10.1002/anie.202110149
    A divergent synthesis of skeletally distinct arboridinine and arborisidine was achieved. The central divergent strategy was inspired by the divergent biosynthetic cyclization mode of arboridinine and arborisidine and their hidden topological connection. The branch point was reached through a Michael and Mannich cascade process. A site-selective intramolecular Mannich reaction was developed to construct the tetracyclic core of arboridinine, while a site-selective intramolecular α-amination of ketone was used to access the tetracyclic core of arborisidine. A strategic Peterson olefination through intramolecular nucleophile delivery was able to set up the exocyclic olefin of arboridinine.
  9. Liu WY, Li HM, Jiang H, Zhang WK
    Pediatr Rheumatol Online J, 2024 Mar 04;22(1):33.
    PMID: 38438855 DOI: 10.1186/s12969-024-00967-3
    OBJECTIVE: Little is known about the efficacy and safety of exercise training on juvenile idiopathic arthritis (JIA). This study aims to investigate the effect of exercise on health, quality of life, and different exercise capacities in individuals with JIA.

    METHOD: A comprehensive search of Medline, Embase, Web of Science, and the Cochrane Library was conducted from database inception to October, 2023. Included studies were randomized controlled trials (RCTs) reporting the effects of exercise on JIA patients. Two independent reviewers assessed the literature quality using the Cochrane Collaboration's risk of bias tool. Standardized mean differences (SMD) were combined using random or fixed effects models. The level of evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach.

    RESULT: Five RCTs met the inclusion criteria, containing 216 female participants and 90 males. The meta-analysis results showed that exercise had no significant effect on JIA patients based on the Child Health Assessment Questionnaire (CHAQ) (SMD=-0.32, 95%CI: -0.83, 0.19; I2 = 73.2%, P = 0.011) and Quality of Life (QoL) (SMD = 0.27, 95%CI: -0.04, 0.58; I2 = 29.4%, P = 0.243) and no significant effect on peak oxygen uptake (VO2peak). However, exercise significantly reduced visual analog scale (VAS) pain scores in JIA patients (SMD = 0.50, 95%CI: -0.90, -0.10; I2 = 50.2%, P = 0.134). The quality of evidence assessed by GRADE was moderate to very low.

    CONCLUSION: Exercise does not significantly affect the quality of life and exercise capacity in JIA patients but may relieve pain. More RCTs are needed in the future to explore the effects of exercise on JIA.

  10. Zhang J, Chu R, Chen Y, Jiang H, Zhang Y, Huang NM, et al.
    Nanotechnology, 2018 Jan 19.
    PMID: 29350621 DOI: 10.1088/1361-6528/aaa94c
    Binder-free nickle cobaltite on carbon nanofiber (NiCo2O4@CNF) anode for lithium ion batteries was prepared via a two-step procedure of electrospinning and electrodeposition. The CNF was obtained by annealing the electrospun poly-acrylonitrile (PAN) in the nitrogen (N2). The NiCo2O4 nanostructures were then grown on the CNF by electrodeposition, followed by annealing in the air. Experimental results showed vertically aligned NiCo2O4 nanosheets were uniformly grown on the surface of CNF, forming an interconnected network. The NiCo2O4@CNF possessed considerable lithium storage capacity and cycling stability. It exhibited a high reversible capacity of 778 mAhg-1 after 300 cycles at a current density of 0.25 C (1 C = 890 mAg-1) with an average capacity loss rate of 0.05% per cycle. The NiCo2O4@CNF had considerable rate capacities, delivering a capacity of 350 mAhg-1 at a current density of 2.0 C. The outstanding electrochemical performance could be mainly attributed to these following reasons. (1) The nanoscale structure of NiCo2O4 could not only shorten the diffusion path of lithium ions and electrons but also increase the specific surface area, providing more active sites for electrochemical reactions. (2) The CNF with considerable mechanical strength and electrical conductivity could function as anchor the NiCo2O4 nanostructure and ensure an efficient electron transfer. (3) The porous structure resulted in high specific surface area and effective buffer the volume changes during the repeated charge-discharge processes. Compared with the conventional hydrothermal method, the electrodeposition could significantly simplify the preparation of NiCo2O4, with shorter preparation period and lower energy consumption. This work provided an alternative strategy to obtain high performance anode for the lithium ion batteries.
  11. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, et al.
    Autophagy, 2016;12(1):1-222.
    PMID: 26799652 DOI: 10.1080/15548627.2015.1100356
  12. Wang W, Hafeez M, Jiang H, Ashraf MU, Asif M, Akram MW
    Environ Sci Pollut Res Int, 2023 Mar;30(12):32751-32761.
    PMID: 36469267 DOI: 10.1007/s11356-022-24218-8
    The presented work analyzes the energy prices, climate shock, and health deprivation nexus in the BRICS economies for the period 1995-2020. Panel ARDL-PMG technique is used to reveal the underexplored linkages. The long-run estimates of energy prices are observed to be negatively significant to the health expenditure and life expectancy model, whereas, positively significant to the climate change model. These findings suggest that energy prices significantly reduce health expenditures and life expectancy and, thus, increase the death rate in the BRICS economies. The long-run country-wise estimate of energy prices is found negatively significant in case of Brazil, India, China, and South Africa. Alongside, the group-wise significance of CO2 emissions is discovered to be negatively, positively, and insignificant in the cases of life expectancy, death rate, and health expenditure models, respectively. Besides, country-wise long-run estimate of CO2 emissions witnesses negative significance for Russia, India, China, and South Africa.
  13. Yu T, Fang Y, Chen X, Liu M, Wang D, Liu S, et al.
    Mater Horiz, 2023 Jun 06;10(6):2181-2190.
    PMID: 36994553 DOI: 10.1039/d3mh00117b
    As an emerging carbon-based material, carbon quantum dots (CQDs) have shown unstoppable prospects in the field of bionic electronics with their outstanding optoelectronic properties and unique biocompatible characteristics. In this study, a novel CQD-based memristor is proposed for neuromorphic computing. Unlike the models that rely on the formation and rupturing of conductive filaments, it is speculated that the resistance switching mechanism of CQD-based memristors is due to the conductive path caused by the hybridization state transition of the sp2 carbon domain and sp3 carbon domain induced by the reversible electric field. This avoids the drawback of uncontrollable nucleation sites leading to the random formation of conductive filaments in resistive switching. Importantly, it illustrates that the coefficient of variation (CV) of the threshold voltage can be as low as -1.551% and 0.083%, which confirms the remarkable uniform switching characteristics. Interestingly, the Pavlov's dog reflection as an important biological behavior can be demonstrated by the samples. Finally, the accuracy recognition rate of MNIST handwriting can reach up to 96.7%, which is very close to the ideal number (97.8%). A carbon-based memristor based on a new mechanism presented provides new possibilities for the improvement of brain-like computing.
  14. Lee G, McMahon CG, McCabe M, Jiang H, Lee SW, Lim P, et al.
    Sex Med, 2016 Aug 12.
    PMID: 27528556 DOI: 10.1016/j.esxm.2016.07.002
    Premature ejaculation (PE) is one of the most prevalent yet under-reported sexual disorders. Differing sociocultural norms across the Asia-Pacific region provide unique challenges in PE management.
  15. Yu L, Jiang H, Mei Q, Mohamad NI, Fernandez J, Gu Y
    Front Bioeng Biotechnol, 2023;11:1229574.
    PMID: 37614628 DOI: 10.3389/fbioe.2023.1229574
    Introduction: Playing badminton has been reported with extensive health benefits, while main injuries were documented in the lower extremity. This study was aimed to investigate and predict the knee- and ankle-joint loadings of athletes who play badminton, with "gold standard" facilities. The axial impact acceleration from wearables would be used to predict joint moments and contact forces during sub-maximal and maximal lunge footwork. Methods: A total of 25 badminton athletes participated in this study, following a previously established protocol of motion capture and musculoskeletal modelling techniques with the integration of a wearable inertial magnetic unit (IMU). We developed a principal component analysis (PCA) statistical model to extract features in the loading parameters and a multivariate partial least square regression (PLSR) machine learning model to correlate easily collected variables, such as the stance time, approaching velocity, and peak accelerations, with knee and ankle loading parameters (moments and contact forces). Results: The key variances of joint loadings were observed from statistical principal component analysis modelling. The promising accuracy of the partial least square regression model using input parameters was observed with a prediction accuracy of 94.52%, while further sensitivity analysis found a single variable from the ankle inertial magnetic unit that could predict an acceptable range (93%) of patterns and magnitudes of the knee and ankle loadings. Conclusion: The attachment of this single inertial magnetic unit sensor could be used to record and predict loading accumulation and distribution, and placement would exhibit less influence on the motions of the lower extremity. The intelligent prediction of loading patterns and accumulation could be integrated to design training and competition schemes in badminton or other court sports in a scientific manner, thus preventing fatigue, reducing loading-accumulation-related injury, and maximizing athletic performance.
  16. Jiang H, Peng H, Guo H, Zeng Y, Li L, Zhang Y, et al.
    ACS Appl Mater Interfaces, 2020 Nov 18;12(46):51344-51356.
    PMID: 33146507 DOI: 10.1021/acsami.0c13139
    Thin-film lithium-ion microbatteries with a high energy density and long lifespan are exceedingly desired for developing self-powered integrated micro-nano devices and systems. However, exploring high-performance thin-film anodes still remains a challenge. Herein, a double-layer-structure diamond-like carbon-ZnS (DLC-ZnS) thin-film anode fabricated by radio frequency magnetron sputtering exhibits high specific capacity and good cycling stability up to 1000 cycles, superior to the pure ZnS thin-film anode. To understand the mechanism, the bimodal amplitude modulated-frequency modulated atomic force microscopy was used to explore the mechanical properties of the thin films, and the DLC layer shows significantly higher Young's modulus than the ZnS thin film. The DLC interface with a high Young's modulus can effectively buffer the mechanical stress originating from the huge volume changes of the ZnS layer during lithiation/delithiation processes; therefore, the DLC interface maintains the higher mechanical integrity of the DLC-ZnS thin film and improves the utilization of ZnS. In addition, the electrochemical kinetics of the DLC-ZnS and ZnS thin films were also investigated by electrochemical methods. Electrochemical impedance spectroscopy tests indicate the obstacle of the DLC interface to Li+ ion diffusion in the initial charge/discharge processes; however, the DLC-ZnS thin film exhibits lower total resistance than the ZnS thin film afterward. In particular, galvanostatic intermittent titration technique tests were performed to find out the differences between the two thin films during the galvanostatical charge/discharge processes. The results demonstrate the obviously enhanced conversion reaction reversibility and decreased alloy reaction polarization of the DLC-ZnS thin film; therefore, it delivers higher reversible capacity.
  17. Jiang H, Xiang X, Hao W, Room R, Zhang X, Wang X
    PMID: 29761160 DOI: 10.1186/s41256-018-0070-2
    Background: The paper reviews alcohol consumption patterns and alcohol-related social and health issues among 15-29-year old young people in Asian countries, and discusses strategies for preventing and controlling alcohol use and related harms.

    Methods: We searched Google Scholar, PubMed, and Web of Science for reports, reviews and journal articles published in English between 1st Jan 1990 and 31st August 2016.

    Results: Forty-one reports, reviews and journal papers were identified and included in the final review. The current drinking levels and prevalence among young people are markedly different between eight included Asian countries, ranging from 4.2% in Malaysia to 49.3% in China. In a majority of the selected Asian countries, over 15% of total deaths among young men and 6% among young women aged 15-29 years are attributable to alcohol use. Alcohol use among young people is associated with a number of harms, including stress, family violence, injuries, suicide, and sexual and other risky behaviours. Alcohol policies, such as controlling sales, social supply and marketing, setting up/raising a legal drinking age, adding health warning labels on alcohol containers, and developing a surveillance system to monitor drinking pattern and risky drinking behaviour, could be potential means to reduce harmful use of alcohol and related harm among young people in Asia.

    Conclusions: The review reveals that drinking patterns and behaviours vary across eight selected Asian countries due to culture, policies and regional variations. The research evidence holds substantial policy implications for harm reduction on alcohol drinking among young people in Asian countries -- especially for China, which has almost no alcohol control policies at present.

  18. Jiang H, Mani MP, Jaganathan SK
    Int J Nanomedicine, 2019;14:8149-8159.
    PMID: 31632024 DOI: 10.2147/IJN.S214646
    Introduction: Recently several new approaches were emerging in bone tissue engineering to develop a substitute for remodelling the damaged tissue. In order to resemble the native extracellular matrix (ECM) of the human tissue, the bone scaffolds must possess necessary requirements like large surface area, interconnected pores and sufficient mechanical strength.

    Materials and methods: A novel bone scaffold has been developed using polyurethane (PE) added with wintergreen (WG) and titanium dioxide (TiO2). The developed nanocomposites were characterized through field emission scanning electron microscopy (FESEM), Fourier transform and infrared spectroscopy (FTIR), X-ray diffraction (XRD), contact angle measurement, thermogravimetric analysis (TGA), atomic force microscopy (AFM) and tensile testing. Furthermore, anticoagulant assays, cell viability analysis and calcium deposition were used to investigate the biological properties of the prepared hybrid nanocomposites.

    Results: FESEM depicted the reduced fibre diameter for the electrospun PE/WG and PE/WG/TiO2 than the pristine PE. The addition of WG and TiO2 resulted in the alteration in peak intensity of PE as revealed in the FTIR. Wettability measurements showed the PE/WG showed decreased wettability and the PE/WG/TiO2 exhibited improved wettability than the pristine PE. TGA measurements showed the improved thermal behaviour for the PE with the addition of WG and TiO2. Surface analysis indicated that the composite has a smoother surface rather than the pristine PE. Further, the incorporation of WG and TiO2 improved the anticoagulant nature of the pristine PE. In vitro cytotoxicity assay has been performed using fibroblast cells which revealed that the electrospun composites showed good cell attachment and proliferation after 5 days. Moreover, the bone apatite formation study revealed the enhanced deposition of calcium content in the fabricated composites than the pristine PE.

    Conclusion: Fabricated nanocomposites rendered improved physico-chemical properties, biocompatibility and calcium deposition which are conducive for bone tissue engineering.

  19. Wu F, Jiang H, Beattie GAC, Holford P, Chen J, Wallis CM, et al.
    Pest Manag Sci, 2018 Nov;74(11):2569-2577.
    PMID: 29688605 DOI: 10.1002/ps.5044
    BACKGROUND: Diaphorina citri (Asian citrus psyllid; ACP) transmits 'Candidatus Liberibacter asiaticus' associated with citrus Huanglongbing (HLB). ACP has been reported in 11 provinces/regions in China, yet its population diversity remains unclear. In this study, we evaluated ACP population diversity in China using representative whole mitochondrial genome (mitogenome) sequences. Additional mitogenome sequences outside China were also acquired and evaluated.

    RESULTS: The sizes of the 27 ACP mitogenome sequences ranged from 14 986 to 15 030 bp. Along with three previously published mitogenome sequences, the 30 sequences formed three major mitochondrial groups (MGs): MG1, present in southwestern China and occurring at elevations above 1000 m; MG2, present in southeastern China and Southeast Asia (Cambodia, Indonesia, Malaysia, and Vietnam) and occurring at elevations below 180 m; and MG3, present in the USA and Pakistan. Single nucleotide polymorphisms in five genes (cox2, atp8, nad3, nad1 and rrnL) contributed mostly in the ACP diversity. Among these genes, rrnL had the most variation.

    CONCLUSION: Mitogenome sequences analyses revealed two major phylogenetic groups of ACP present in China as well as a possible unique group present currently in Pakistan and the USA. The information could have significant implications for current ACP control and HLB management. © 2018 Society of Chemical Industry.

  20. Shang X, Peng Z, Ye Y, Asan, Zhang X, Chen Y, et al.
    EBioMedicine, 2017 Sep;23:150-159.
    PMID: 28865746 DOI: 10.1016/j.ebiom.2017.08.015
    Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 β-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis. In the molecular screening analysis of the 10,111 couples, we detected 4180 individuals in total who carried 4840 mutant alleles, and identified 186 couples at risk of having affected offspring. 12.1% of the pathogenic or likely pathogenic variants identified by our NGS assay, which were undetectable by traditional methods. Compared with the traditional methods, our assay identified an additional at-risk 35 couples. We describe a comprehensive NGS-based test that offers advantages over the traditional screening/molecular testing methods. To our knowledge, this is among the first large-scale population study to systematically evaluate the application of an NGS technique in carrier screening and molecular diagnosis of hemoglobinopathies.
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