Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 124
Filter
1.
Article in English | MEDLINE | ID: mdl-39331630

ABSTRACT

Platelet acts as a crucial monitoring indicator for hypercoagulability and thrombosis and a key target for drug regulation. Genotype-phenotype association studies have confirmed that platelet traits are quantitatively regulated by multiple genes. However, there is currently a lack of genetic studies on the heterogeneity of platelet traits in ß-thalassemia under hypercoagulable state. Here, we studied the phenotypic heterogeneity of platelet count (PLT) and mean platelet volume (MPV) in 1020 ß-thalassemia patients. We further performed a functionally informed whole genome sequencing association analysis of common variants and rare variants (RVs) for PLT and MPV in 916 patients through integrative analysis of whole-genome sequencing data and functional annotation data. Extreme phenotypic heterogeneity of platelet traits was observed in ß-thalassemia patients. Additionally, the common variant based gene-level analysis identified the novel gene of RNF144B associated with MPV. The RV analysis identified several novel associations in both coding and noncoding genome, including missense RVs of PPP2R5C associated with PLT and missense RVs of TSSK1B associated with MPV. In conclusion, we performed a comprehensive and systematic whole genome scan of platelet traits in the ß-thalassemia cohort, demonstrating the specificity of genetic regulation of platelet traits in the context of ß-thalassemia, providing potential targets for intervention.

2.
Insects ; 15(9)2024 Sep 14.
Article in English | MEDLINE | ID: mdl-39336667

ABSTRACT

The mitochondrial genome (mitogenome) of Thysanoptera has extensive gene rearrangement, and some species have repeatable control regions. To investigate the characteristics of the gene expression, transcription and post-transcriptional processes in such extensively gene-rearranged mitogenomes, we sequenced the mitogenome and mitochondrial transcriptome of Sericothrips houjii to analyze. The mitogenome was 14,965 bp in length and included two CRs contains 140 bp repeats between COIII-trnN (CR1) and trnT-trnP (CR2). Unlike the putative ancestral arrangement of insects, S. houjii exhibited only six conserved gene blocks encompassing 14 genes (trnL2-COII, trnD-trnK, ND2-trnW, ATP8-ATP6, ND5-trnH-ND4-ND4L and trnV-lrRNA). A quantitative transcription map showed the gene with the highest relative expression in the mitogenome was ND4-ND4L. Based on analyses of polycistronic transcripts, non-coding RNAs (ncRNAs) and antisense transcripts, we proposed a transcriptional model of this mitogenome. Both CRs contained the transcription initiation sites (TISs) and transcription termination sites (TTSs) of both strands, and an additional TIS for the majority strand (J-strand) was found within antisense lrRNA. The post-transcriptional cleavage processes followed the "tRNA punctuation" model. After the cleavage of transfer RNAs (tRNAs), COI and ND3 matured as bicistronic mRNA COI/ND3 due to the translocation of intervening tRNAs, and the 3' untranslated region (UTR) remained in the mRNAs for COII, COIII, CYTB and ND5. Additionally, isoform RNAs of ND2, srRNA and lrRNA were identified. In summary, the relative mitochondrial gene expression levels, transcriptional model and post-transcriptional cleavage process of S. houjii are notably different from those insects with typical mitochondrial gene arrangements. In addition, the phylogenetic tree of Thripidae including S. houjii was reconstructed. Our study provides insights into the phylogenetic status of Sericothripinae and the transcriptional and post-transcriptional regulation processes of extensively gene-rearranged insect mitogenomes.

3.
Prenat Diagn ; 2024 Sep 10.
Article in English | MEDLINE | ID: mdl-39256948

ABSTRACT

OBJECTIVE: Thalassemia is a Mendelian-inherited blood disorder with severe consequences, including disability and mortality, making it a significant public health concern. Therefore, there is an urgent need for precise diagnostic technologies. We introduce two innovative diagnostic techniques for thalassemia, SNPscan and CNVplex, designed to enhance molecular diagnostics of thalassemia. METHODS: The SNPscan and CNVplex assays utilize variations in PCR product length and fluorescence to identify multiple mutations. In the SNPscan method, we designed three probes per locus: two 5' and one 3', and incorporated allele identification link sequences into one of the 5' probes to distinguish the alleles. The detection system was designed for 67 previously reported loci in the Chinese population for a specific genetic condition. CNVplex identifies deletion types by analyzing the specific positions of probes within the globin gene. This innovative approach enables the detection of six distinct deletional mutations, enhancing the precision of thalassemia diagnostics. We evaluated and refined the methodologies in a training cohort of 100 individuals with confirmed HBA and HBB genotypes. The validation cohort, consisting of 1647 thalassemia patients and 100 healthy controls, underwent a double-blind study. Traditional diagnostic techniques served as the control methods. RESULTS: In the training set of 100 samples, 10 mutations (Hb QS, Hb CS, Hb Westmead, CD17, CD26, CD41-42, IVS-II-654, --SEA, -α3.7 and -α4.2) were identified, consistent with those identified by traditional methods. The validation study showed that SNPscan/CNVplex offered superior molecular diagnostic capabilities for thalassemia, with 100% accuracy compared to 99.43% for traditional methods. Notably, the assay identified three previously undetected mutations in 10 cases, including two deletion mutations (Chinese Gγ(Aγδß)0 del and SEA-HPFH), and one non-deletion mutation (Hb Q-Thailand). CONCLUSIONS: The SNPscan/CNVplex assay is a cost-effective and user-friendly tool for diagnosing thalassemia, demonstrating high accuracy and reliability, and showing great potential as a primary diagnostic method in clinical practice.

4.
Article in English | MEDLINE | ID: mdl-39264845

ABSTRACT

AIMS: Tumor microenvironment (TME) plays a crucial role in sustaining cancer stem cells (CSCs). 4-hydroxynonenal (4-HNE) is abundantly present in the TME of colorectal cancer (CRC). However, the contribution of 4-HNE to CSCs and cancer progression remains unclear. This study aimed to investigate the impact of 4-HNE on the regulation of CSC fate and tumor progression. METHODS: Human CRC cells were exposed to 4-HNE, and CSC signaling was analyzed using quantitative real-time PCR, immunofluorescent staining, fluorescence-activated cell sorting, and bioinformatic analysis. Tumor-promoting role of 4-HNE was confirmed using a xenograft model. RESULTS: Exposure of CRC cells to 4-HNE activated non-canonical Hedgehog (HH) signaling and homologous recombination repair (HRR) pathways in LGR5+ CSCs. Furthermore, blocking HH signaling led to a significant increase in the expression of γH2AX, indicating that 4-HNE induces double-stranded DNA breaks (DSBs) and simultaneously activates HH signaling to protect CSCs from 4-HNE-induced damage via the HRR pathway. Additionally, 4-HNE treatment increased the population of LGR5+ CSCs and promoted asymmetric division in these cells, leading to enhanced self-renewal and differentiation. Notably, 4-HNE also promoted xenograft tumor growth and activated CSC signaling in vivo. INNOVATION AND CONCLUSION: These findings demonstrate that 4-HNE, as a signaling inducer in the TME, activates the non-canonical HH pathway to shield CSCs from oxidative damage, enhances the proliferation and asymmetric division of LGR5+ CSCs, and thereby facilitates tumor growth. These novel insights shed light on the regulation of CSC fate within the oxidative TME, offering potential implications for understanding and targeting CSCs for CRC therapy.

5.
Zookeys ; 1210: 197-206, 2024.
Article in English | MEDLINE | ID: mdl-39220724

ABSTRACT

A new species Serangiumxinpingensis Huang & Wang, sp. nov. is described from Yunnan Province, China, as a newly discovered predator on Bemisiatabaci Gennadius (Hemiptera, Sternorrhyncha, Aleyrodidae). The new species is a valuable addition to the 14 species of this genus in China known before. A diagnosis, detailed description, including the structure of its immature stages, illustrations, and the distribution of the new species are provided.

6.
Sci Total Environ ; 951: 175484, 2024 Nov 15.
Article in English | MEDLINE | ID: mdl-39142415

ABSTRACT

The Jinsha River Basin (JRB) contributes a significant amount of sediment to the Yangtze River; however, an imbalance exists between runoff and sediment. The underlying mechanisms and primary factors driving this imbalance remain unclear. In this study, the Shapley Additive Explanation (SHAP) and Geographical Detector Model (GDM) were employed to quantify the importance of the driving factors for water yield (WYLD) and sediment yield (SYLD) using the Soil and Water Assessment Tool (SWAT) model in the JRB. The results indicated that the SWAT model performed well in simulating runoff and sediment, with R2 > 0.61 and NSE > 0.5. Based on the simulated data, SYLD exhibited strong spatiotemporal linkages with WYLD. Temporally, both sediment and runoff showed decreasing trends, with the sediment decrease being more pronounced. Spatially, WYLD and SYLD displayed similar distribution patterns, with low values in the southwest and high values in the northeast. By quantifying the driving factors, we found that climatic factors, including precipitation and potential evapotranspiration, were the main influencing factors for WYLD and SYLD across the entire region, though their contributions to the two variables differed. For WYLD, climatic factors accounted for 70 % of the total influencing factors, whereas their contribution to SYLD was 50 %. Furthermore, soil type and land-use type played significant roles in the SYLD, with importance values of 16 % and 12 %, respectively. Under the influence of surface conditions, the proportion of SYLD in the JRB to the total SYLD in the Yangtze River Basin was greater than that of WYLD. The findings of this study provide scientific evidence and technical support for local environmental impact assessments and the formulation of soil and water conservation plans.

7.
Biodivers Data J ; 12: e129927, 2024.
Article in English | MEDLINE | ID: mdl-39070711

ABSTRACT

Background: Nesolotis Miyatake, 1966 shows a high diversity in the Oriental Realm. New information: Here, we recorded this genus in Laos for the first time and provided a detailed description of a new species, namely Nesolotislaotica Lv & Wang, sp. nov.

8.
J Invertebr Pathol ; 206: 108156, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38901686

ABSTRACT

The diamondback moth (Plutella xylostella), a major threat to crucifers across the globe, has developed resistance against the majority of insecticides enhancing the need for alternate control measures against this pest. Recently cyclosporin C, a secondary metabolite produced by the insect pathogenic fungus Purpeocillium lilacinum, has been reported to induce lethal and sub-lethal effects against P. xylostella. To date, little is known about the molecular mechanisms of interaction between cyclosporin C and P. xylostella immune systems. This study reports the transcriptome-based immune response of P. xylostella to cyclosprin C treatment. Our results showed differential expression of 322, 97, and 504 differentially expressed genes (DEGS) in P. xylostella treated with cyclosporin C compared to control 24, 48, and 72 h post-treatment, respectively. Thirteen DEGs were commonly expressed at different time intervals in P. xylostella larvae treated with cyclosporin C compared to control. Cyclosporin C treatment induced the down-regulated expression of majority of immune-related genes related to pattern recognition responses, signal modulation, Toll and IMD pathways, antimicrobial peptides and antioxidant responses confirming the ability to suppress immune response of P. xylostella. These results will further improve our knowledge of the infection mechanism and complex biochemical processes involved in interaction between cyclosporin C and insect immune systems.


Subject(s)
Cyclosporine , Gene Expression Profiling , Moths , Animals , Moths/immunology , Moths/drug effects , Moths/microbiology , Moths/genetics , Cyclosporine/pharmacology , Transcriptome/drug effects , Hypocreales/genetics , Larva/drug effects , Larva/microbiology , Larva/immunology , Fungal Proteins/genetics , Fungal Proteins/metabolism
9.
Insects ; 15(5)2024 May 19.
Article in English | MEDLINE | ID: mdl-38786927

ABSTRACT

In this study, a new species of the subgenus Pullus belonging to the Scymnus genus from Pakistan, Scymnus (Pullus) cardi sp. nov., was described and illustrated, with information on its distribution, host plants, and prey. Additionally, the completed mitochondrial genome (mitogenome) of the new species using high-throughput sequencing technology was obtained. The genome contains the typical 37 genes (13 protein-coding genes, two ribosomal RNAs, and 22 transfer RNAs) and a non-coding control region, and is arranged in the same order as that of the putative ancestor of beetles. The AT content of the mitogenome is approximately 85.1%, with AT skew and GC skew of 0.05 and -0.43, respectively. The calculated values of relative synonymous codon usage (RSCU) determine that the codon UUA (L) has the highest frequency. Furthermore, we explored the phylogenetic relationship among 59 representatives of the Coccinellidae using Bayesian inference and maximum likelihood methods, the results of which strongly support the monophyly of Coccinellinae. The phylogenetic results positioned Scymnus (Pullus) cardi in a well-supported clade with Scymnus (Pullus) loewii and Scymnus (Pullus) rubricaudus within the genus Scymnus and the tribe Scymnini. The mitochondrial sequence of S. (P.) cardi will contribute to the mitochondrial genome database and provide helpful information for the identification and phylogeny of Coccinellidae.

10.
Nat Commun ; 15(1): 1306, 2024 Feb 20.
Article in English | MEDLINE | ID: mdl-38378680

ABSTRACT

Traffic light optimization is known to be a cost-effective method for reducing congestion and energy consumption in urban areas without changing physical road infrastructure. However, due to the high installation and maintenance costs of vehicle detectors, most intersections are controlled by fixed-time traffic signals that are not regularly optimized. To alleviate traffic congestion at intersections, we present a large-scale traffic signal re-timing system that uses a small percentage of vehicle trajectories as the only input without reliance on any detectors. We develop the probabilistic time-space diagram, which establishes the connection between a stochastic point-queue model and vehicle trajectories under the proposed Newellian coordinates. This model enables us to reconstruct the recurrent spatial-temporal traffic state by aggregating sufficient historical data. Optimization algorithms are then developed to update traffic signal parameters for intersections with optimality gaps. A real-world citywide test of the system was conducted in Birmingham, Michigan, and demonstrated that it decreased the delay and number of stops at signalized intersections by up to 20% and 30%, respectively. This system provides a scalable, sustainable, and efficient solution to traffic light optimization and can potentially be applied to every fixed-time signalized intersection in the world.

12.
J Hazard Mater ; 465: 133244, 2024 03 05.
Article in English | MEDLINE | ID: mdl-38147756

ABSTRACT

Cadmium (Cd) is a heavy metal that is of great concern in agroecosystems due to its toxicity to plants, herbivores, carnivores, and human beings. The current study evaluated the allocation and bioaccumulation of Cd from soil to cotton plants, cotton plants to herbivore pests, and herbivorous pests to a natural enemy predator. When soil was spiked with 100 mg/kg Cd, results demonstrated that cotton roots accumulated more Cd than the stems and leaves. The bioaccumulation of Cd was less in 4th instar larvae, pupa, and adults of Serangium japonicum than in Bemisia tabaci adults. The bioaccumulation in S. japonicum elongated the immature development period and reduced adult longevity, oviposition days, fertility, and total pre-oviposition duration. The net reproduction of S. japonicum was also reduced, as was female mature weight and feeding potential; as a result, Cd exposure could reduce the future population size compared to uncontaminated populations. There was decreased activity of the antioxidant enzymes (SOD, CAT, and POD) and energy-conserving lipids (glycogen, triglyceride, and total cholesterol) in Cd-contaminated S. japonicum compared to controls. The detoxifying enzyme activity of GST and P450 increased while AChE activity did not change. The qRT-PCR research showed that SOD1, CAT, POD, glycogen, and triglyceride gene expression was higher than in controls, whereas detoxification gene expression did not change. Our results indicate that Cd exposure has a physiological trade-off between its adverse effects on life history traits and elevated detoxification and antioxidation of S. japonicum, which could result from gene expression alteration. Further studies are needed to assess whether Cd exposure causes irreversible DNA damage in S. japonicum.


Subject(s)
Coleoptera , Hemiptera , Humans , Animals , Female , Coleoptera/physiology , Cadmium , Antioxidants , Glycogen , Soil , Triglycerides
13.
ACS Omega ; 8(44): 41512-41522, 2023 Nov 07.
Article in English | MEDLINE | ID: mdl-37970007

ABSTRACT

In this work, a novel heavy metal chelating agent (DTC-SDS) containing dithiocarbamate (DTC) was synthesized using sodium dodecyl sulfate (SDS), formaldehyde, and carbon disulfide. DTC-SDS has excellent trapping performance under pH 1-7 and initial concentrations 100-500 mg/L. With the increase in adsorbent dose, the adsorption amount of DTC-SDS increases and then decreases, and the optimized dosage of DTC-SDS is 0.02 g. The DTC-SDS adsorbent exhibits superior adsorption capacity (191.01, 111.7, and 79.14 mg/g) and high removal rates (97.99%, 98.48%, and 99.91%) for Mn2+, Zn2+, and Pb2+ respectively, in wastewater. Such remarkable adsorption performance could be attributed to the strong trapping effect on heavy metal ions by the C-S bond of DTC-SDS. The liquid adsorbent was in full contact with heavy metal ions, which further enhanced the complexation of heavy metal ions. The adsorption isothermal model showed that the adsorption process was typical of Langmuir monomolecular layer adsorption. Kinetic studies showed that the pseudo-second-order kinetic model fits the experimental adsorption data better than the pseudo-first-order kinetic model. In the ternary metal species system (Mn2+, Zn2+, and Pb2+), DTC-SDS preferentially adsorbed Pb2+ due to its highest covalent index. The main controlling step is the chemical interaction between the active groups of DTC-SDS and the heavy metal ions. This work provides valuable insights into the adsorption of heavy metal ions onto dithiocarbamate, which could guide the development of other heavy metal chelating agents and be beneficial for developing novel treatments of wastewater contaminated with heavy metals.

14.
Heliyon ; 9(9): e19815, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37810110

ABSTRACT

Chronic inflammation-induced oxidative stress is an important driving force for developing colitis-associated cancer (CAC). 4-hydroxynonenal (4-HNE) is a highly reactive aldehyde derived from lipid peroxidation of ω-6 polyunsaturated fatty acids that contributes to colorectal carcinogenesis. Glutathione S-transferase alpha 4 (Gsta4) specifically conjugates glutathione to 4-HNE and thereby detoxifies 4-HNE. The correlation of these oxidative biomarkers with the pathological changes in CAC is, however, unclear. In this study, we investigated the expression of Gsta4 and 4-HNE adducts in azoxymethane/dextran sulfate sodium (AOM/DSS)-induced murine CAC, and analyzed the correlations of 4-HNE and Gsta4 with inflammatory cytokines and the pathological scores in the colon biopsies. Real-time quantitative PCR showed that expression of IL6, TNFα, and Gsta4 sequentially increased in colon tissues for mice treated with DSS for 1, 2, and 3 cycles, respectively. Moreover, immunohistochemical staining showed remarkably increased expression of 4-HNE adducts, Gsta4, TNFα, and IL6 in the colon biopsies after 3 cycles of DSS treatment. Correlation analysis demonstrated that 4-HNE adducts in the colon biopsies were positively correlated with Gsta4 expression. Additionally, the expression of Gsta4 and 4-HNE adducts were strongly correlated with the pathological changes of colon, as well as the expression of TNFα and IL6 in colon tissues. These results provide evidence for the association of oxidative biomarkers Gsta4 and 4-HNE with the pathological changes of CAC and may help developing novel histopathological biomarkers and prevention targets for CAC.

15.
Chemistry ; 29(52): e202300950, 2023 Sep 15.
Article in English | MEDLINE | ID: mdl-37392150

ABSTRACT

γ-Valerolactone (GVL) is considered as a star biochemical which can be used as a green solvent, fuel additive and versatile organic intermediate. In this study, metal triflate (M(OTf)n ) was utilized as the catalyst for one-pot transformation of furfural (FF) to GVL in alcohol media under microwave irradiation. Alcohol plays multiple functions including solvent, hydrogen donor and alcoholysis reagent in this cascade reaction process. And process efficiency of GVL production from FF upgrading is strongly related to the effective charge density of selected catalyst and the reduction potential of selected alcohol. Complex (OTf)n -M-O(H)R, presenting both Brønsted acid and Lewis acid, is the real catalytic active species in this cascade reaction process. Among various catalysts, Sc(OTf)3 exhibited the best catalytic activity for GVL production. Various reaction parameters including the Sc(OTf)3 amount, reaction temperature and time were optimized by the response surface methodology with the central composite design (RSM-CCD). Up to 81.2 % GVL yield and 100 % FF conversion were achieved at 143.9 °C after 8.1 h in the presence of 0.16 mmol catalyst. This catalyst exhibits high reusability and can be regenerated by oxidative degradation of humins. In addition, a plausible cascade reaction network was proposed based on the distribution of product.

16.
Biochem Pharmacol ; 213: 115632, 2023 07.
Article in English | MEDLINE | ID: mdl-37263300

ABSTRACT

BACKGROUND: Sepsis is a systemic inflammatory disease caused by multiple pathogens, with the most commonly affected organ being the lung. 3-Hydroxybutyrate plays a protective role in inflammatory diseases through autophagy promotion; however, the exact mechanism remains unexplored. METHOD: Our study used the MIMIC-III database to construct a cohort of ICU sepsis patients and figure out the correlation between the level of ketone bodies and clinical prognosis in septic patients. In vivo and in vitro models of sepsis were used to reveal the role and mechanism of 3-hydroxybutyrate in sepsis-associated acute lung injury (sepsis-associated ALI). RESULT: Herein, we observed a strong correlation between the levels of ketone bodies and clinical prognosis in patients with sepsis identified using the MIMIC- III database. In addition, exogenous 3-hydroxybutyrate supplementation improved the survival rate of CLP-induced sepsis in mice by promoting autophagy. Furthermore, 3-hydroxybutyrate treatment protected against sepsis-induced lung damage. We explored the mechanism underlying these effects. The results indicated that 3-hydroxybutyrate upregulates autophagy levels by promoting the transfer of transcription factor EB (TFEB) to the macrophage nucleus in a G-protein-coupled receptor 109 alpha (GPR109α) dependent manner, upregulating the transcriptional level of ultraviolet radiation resistant associated gene (UVRAG) and increasing the formation of autophagic lysosomes. CONCLUSION: 3-Hydroxybutyrate can serve as a beneficial therapy for sepsis-associated ALI through the upregulation of autophagy. These results may provide a basis for the development of promising therapeutic strategies for sepsis-associated ALI.


Subject(s)
3-Hydroxybutyric Acid , Acute Lung Injury , Sepsis , Animals , Mice , 3-Hydroxybutyric Acid/therapeutic use , Acute Lung Injury/drug therapy , Acute Lung Injury/etiology , Autophagy , Lung , Macrophages , Sepsis/complications , Ultraviolet Rays
17.
Anal Methods ; 15(20): 2522-2527, 2023 05 25.
Article in English | MEDLINE | ID: mdl-37191086

ABSTRACT

An efficient and innovative strategy for colorimetric detection of bisphenol A (BPA) is shown here based on target-induced catalytic hairpin assembly (CHA) and DNAzyme-caused fragment self-assembly hybridization chain reaction (HCR). BPA can bind with its aptamer hairpin to trigger CHA, thus forming Y-shaped DNA nanostructures with an enzyme-strand (E-DNA) tail. Subsequently, the E-DNA can cyclically cleave the substrate hairpin, generating many fragments which can cause self-assembly HCR to form long strand DNA. Finally, the formed long strand DNA can hybridize with short single strand DNA on AuNPs, causing the color change of AuNPs from red to blue. Six important detection conditions of the proposed aptasensor were optimized. Under optimal conditions, the biosensor has high sensitivity for BPA detection at concentrations ranging from 0.8 pM to 500 pM and the detection limit is as low as 0.2 pM, providing a promising prospective ultrasensitive detection of BPA.


Subject(s)
DNA, Catalytic , Metal Nanoparticles , DNA, Catalytic/chemistry , Colorimetry , Gold/chemistry , Prospective Studies , Metal Nanoparticles/chemistry , DNA/chemistry
18.
Clin Biochem ; 116: 20-23, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36878345

ABSTRACT

BACKGROUND: Thalassemia, one of the most prevalent monogenic diseases worldwide, is caused by an imbalance of α-like and non-α-like globin chain production. Copy number variations, which cause the most common genotype of α-thalassemia, can be detected by multiple diagnostic methods. CASE REPORT: The proband was a 31-year-old female who was diagnosed with microcytic hypochromic anemia by antenatal screening. Hematological analysis and molecular genotyping were conducted on the proband and the proband's family members. Gap-polymerase chain reaction, Sanger sequencing, multiplex ligation-dependent probe amplification, and next-generation sequencing were used to detect potentially pathogenic genes. Familial studies and genetic analyses revealed a novel deletion of 27.2 kb located in the α-globin gene cluster (NC_000016.9: g. 204538_231777delinsTAACA). CONCLUSIONS: We reported a novel α-thalassemia deletion and described the process of molecular diagnosis. The novel deletion extends the thalassemia mutation spectrum, which may be helpful in genetic counseling and clinical diagnosis in the future.


Subject(s)
alpha-Thalassemia , Humans , Female , Pregnancy , Adult , alpha-Thalassemia/diagnosis , alpha-Thalassemia/genetics , DNA Copy Number Variations , Mutation , Genotype , Multiplex Polymerase Chain Reaction , alpha-Globins/genetics
19.
Int J Lab Hematol ; 45(4): 571-580, 2023 Aug.
Article in English | MEDLINE | ID: mdl-36918023

ABSTRACT

INTRODUCTION: Thalassemia is the most common monogenic disease in South and Southeast Asia. An accurate assessment of the relative frequency and composition of thalassemia mutations is important for the design of appropriate strategies to prevent the disease. In this study, we aimed to decode the molecular characterization of thalassemia mutations in Zhuhai region of southern China. METHODS: A total of 8048 individuals who were potential thalassemia carriers were enrolled. Gap-polymerase chain reaction (Gap-PCR) and reverse dot-blot (RDB) hybridization methods were employed to detect common deletional and non-deletional thalassemia mutations. Multiplex ligation dependent probe amplification (MLPA) and Sanger sequencing were used to analyze and verify rare and complex mutations. RESULTS: We diagnosed 3433 individuals as thalassemia carriers or patients. Of these, 2395 (69.76%) individuals with α-thalassemia harbored 13 α-globin gene mutations. The three most common α-thalassemia mutations were --SEA (60.08%), -α3.7 (20.62%) and -α4.2 (9.25%). We diagnosed 903 (26.30%) individuals with ß-thalassemia and identified 20 ß-globin gene mutations, of which the three most frequent were CD41/42 (-TCTT) (38.10%), IVS-II-654 (C>T) (23.69%) and TATAbox-28 (A>G) (15.18%). In addition, we identified 15 rare thalassemia variants. We also summarized the association between the thalassemia genotype and hematological parameters, which demonstrated the broad phenotypic heterogeneity caused by globin gene mutations. CONCLUSION: This is the first survey of thalassemia molecular epidemiology and hematological phenotype in Zhuhai region. It uncovered a high prevalence and complex molecular spectrum of thalassemia. These findings can be used as a basis for thalassemia diagnosis, counseling and prevention management.


Subject(s)
alpha-Thalassemia , beta-Thalassemia , Humans , beta-Thalassemia/diagnosis , beta-Thalassemia/epidemiology , beta-Thalassemia/genetics , alpha-Thalassemia/epidemiology , alpha-Thalassemia/genetics , Genotype , Heterozygote , Mutation , China/epidemiology
20.
BMC Genomics ; 24(1): 112, 2023 Mar 14.
Article in English | MEDLINE | ID: mdl-36918764

ABSTRACT

BACKGROUND: The mass production of natural predators with prolonged shelf life is a prerequisite for their field application as pest control agents. The traditional methods used for the mass production of Serangium japonicum rely heavily on the consistent supply of natural prey. This study explains the effects of B. tabaci (natural prey) and C. cephalonica eggs (alternative food) on life history and transcriptome profile of S. japanicum. METHODS: This study compares the effects of B. tabaci (natural prey) and C. cephalonica eggs (alternative food) on biology, reproduction, and predatory efficacy, and transcriptome profile of S. japanicum. RESULTS: This study revealed that S. japonicum was able to successfully complete its life cycle while feeding on B. tabaci (natural prey) and C. cephalonica eggs (alternative food). The C. cephalonica eggs fed S. japonicum individuals had longer developmental period and lower fecundity as compared to those feeding on whitefly but the survival rates (3rd instar nymphs, 4th instar nymphs and pupae) and predatory efficacy of C. cephalonica eggs fed S. japonicum individuals were significantly similar to to those feeding on whitefly.Transcriptome analysis showed that when faced with dietary changes, S. japanicum could successfully feed on C. cephalonica eggs by regulating genes related to nutrient transport, metabolism, and detoxification. Moreover, S. japanicum degraded excess cellular components through ribosomal autophagy and apoptosis, which provided sufficient materials and energy for survival and basic metabolism. CONCLUSION: Corcyra cephalonica eggs can be used as an alternate host for the predator, Serangium japonicum, as the survival rates and predatory efficacy of the predator are similar to those feeding on the natural host (B.tabaci). When faced with dietary changes, S. japanicum could successfully feed on C. cephalonica eggs as revealed by upregulation of genes related to nutrient transport, metabolism, and detoxification. These findings are of great significance for studying the functional evolution of S. japonicum in response to dietary changes.


Subject(s)
Coleoptera , Hemiptera , Lepidoptera , Animals , Humans , Transcriptome , Hemiptera/genetics , Life Cycle Stages , Reproduction
SELECTION OF CITATIONS
SEARCH DETAIL