Journal of Genetic Engineering and Biotechnology最新文献

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Exploring advanced genomic and immunoinformatics techniques for identifying drug and vaccine targets against SARS-CoV-2 探索先进的基因组学和免疫信息学技术,以确定抗击 SARS-CoV-2 的药物和疫苗靶点
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-16 DOI: 10.1016/j.jgeb.2024.100439
Syed Luqman Ali , Awais Ali , Waseef Ullah , Abdulaziz Alamri , Elham Mohammed Khatrawi , Gulzira Sagimova , Aigul Almabayeva , Farida Rakhimzhanova , Gulsum Askarova , Fatima Suleimenova , Nabras Al-Mahrami , Prasanta Kumar Parida
{"title":"Exploring advanced genomic and immunoinformatics techniques for identifying drug and vaccine targets against SARS-CoV-2","authors":"Syed Luqman Ali ,&nbsp;Awais Ali ,&nbsp;Waseef Ullah ,&nbsp;Abdulaziz Alamri ,&nbsp;Elham Mohammed Khatrawi ,&nbsp;Gulzira Sagimova ,&nbsp;Aigul Almabayeva ,&nbsp;Farida Rakhimzhanova ,&nbsp;Gulsum Askarova ,&nbsp;Fatima Suleimenova ,&nbsp;Nabras Al-Mahrami ,&nbsp;Prasanta Kumar Parida","doi":"10.1016/j.jgeb.2024.100439","DOIUrl":"10.1016/j.jgeb.2024.100439","url":null,"abstract":"<div><div>The coronavirus that causes serious acute respiratory syndrome. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is still a major problem in public health and biomedicine. Even if there is no cure for it, the infection is still progressing naturally, and the only time that optimal treatment choices, such as doxycycline, work is at the beginning of the infection. Our project is structured into two critical parts: the first focuses on the identification of potential drug targets, and the second on vaccine design, both aimed at exploring new ways to treat the disease. Initially, cytoplasmic proteins identified through subtractive analysis underwent comprehensive evaluation for potential drug targeting, focusing on metabolic pathways, homology prediction, drugability assessment, essentiality, and protein–protein interactions. Subsequently, surface proteins underwent rigorous assessment for allergenicity, antigenicity, physiochemical attributes, conserved regions, protein interactions, and identification of B and T cell epitopes. Molecular docking and immunological simulation analyses were then employed to develop and characterize a multi-epitope vaccine, integrating findings from the aforementioned evaluations. Findings from the study point to six proteins as potential critical therapeutic targets for SARS-CoV-2, each of which is involved in a distinct metabolic process. The reverse vaccinology analysis suggested that the following proteins could be used as vaccine candidates: sp|P05106, sp|O00187, sp|Q9NYK1, sp|P05556, sp|P09958, and sp|Q9HC29. Four multi-epitope vaccine named as SARS-COV-2-, C1, C2, C3, and C4 was designed by utilizing different adjuvants and eighteen B cell overlapped epitopes which were predicted from top ranked protiens. Based on immune simulation study, the vaccine exhibited adequate immune-reactivity and favorable encounters with toll-type receptors (TLR4, TLR8, HLA, etc ACE), Among them the SARS-COV-2-C2 showed best binding affinity of which all receptors. Findings from this study could be a game-changer in the quest to develop a vaccine and medication that effectively combat SARS-CoV-2. It is necessary to do additional experimental analyses, nevertheless.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100439"},"PeriodicalIF":3.5,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142659012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of plasma microRNAs with COVID-19 severity and outcome 血浆微RNA与COVID-19严重程度和预后的关系
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-14 DOI: 10.1016/j.jgeb.2024.100433
Sohair Salem , Randa Lotfy , Noha Eltaweel , Mohamed Elbadry
{"title":"Association of plasma microRNAs with COVID-19 severity and outcome","authors":"Sohair Salem ,&nbsp;Randa Lotfy ,&nbsp;Noha Eltaweel ,&nbsp;Mohamed Elbadry","doi":"10.1016/j.jgeb.2024.100433","DOIUrl":"10.1016/j.jgeb.2024.100433","url":null,"abstract":"<div><h3>Objective</h3><div>As one of the remarkable host responses to SARS-CoV-2 infection, circulating microRNAs (miRNAs) represent important diagnostic and prognostic diseases biomarkers. The study is a step towards highlighting the role of miRNAs in COVID-19 pathogenesis and severity.</div></div><div><h3>Methods</h3><div>In this case-control study, miRCURY LNA miRNA PCR plasma panel (168 miRNAs) was applied and the expression of the altered miRNAs was then analysed by quantitative real time PCR for 120 COVID-19 patients (30 mild, 30 moderate, 30 severe, and 30 critical) and 30 healthy subjects.</div></div><div><h3>Results</h3><div>The initial screening showed that 30 miRNAs displayed altered expression, out of them, only eleven miRNAs (miR-885-5p, miR-141-3p, miR-21-5p, miR-127-3p, miR-99b-5p, let-7d-3p, miR-375, miR-1260a, miR-139-5p, miR-28-5p and miR-34a-5p) were dysregulated in the plasma of COVID-19 patients; all of them were significantly overexpressed. By applying ROC curve analysis, AUC for the eleven miRNAs were ranged from 0.65 to 0.83, and the AUC for the combined miRNAs was 0.93. Ten miRNAs (miR-141-3p, miR-181a-5p, miR-221-3p, miR-223-5p, miR99b-5p, Let-7d-3p, miR-375, miR-199a-5p, miR-139-5p and miR-28-5p) exhibited a significant change in their expression between different severity groups. Patients with positive outcome were found to have increased miR-375 and decreased miR-99b-5p expression levels. Bioinformatic prediction showed that, out of the eleven dysregulated miRNAs, five miRNAs (miR-139-5p, −34a-5p, −28-5p, −21-5p and −885-5p) have the ability to regulate at least two genes related to COVID-19 according to KEGG database.</div></div><div><h3>Conclusion</h3><div>miRNAs are dysregulated in COVID-19 patients and associated with severity degree and patients’ outcome.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100433"},"PeriodicalIF":3.5,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142659011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of homologous overexpression of PR10a gene on improving salt stress tolerance in transgenic Solanum tuberosum 同源过表达 PR10a 基因对提高转基因茄科植物耐盐胁迫能力的影响
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-13 DOI: 10.1016/j.jgeb.2024.100437
Moemen S. Hanafy , Abeer F. Desouky , Mohsen S. Asker , Eman R. Zaki
{"title":"Impact of homologous overexpression of PR10a gene on improving salt stress tolerance in transgenic Solanum tuberosum","authors":"Moemen S. Hanafy ,&nbsp;Abeer F. Desouky ,&nbsp;Mohsen S. Asker ,&nbsp;Eman R. Zaki","doi":"10.1016/j.jgeb.2024.100437","DOIUrl":"10.1016/j.jgeb.2024.100437","url":null,"abstract":"<div><div>Abiotic stresses severely affected crop productivity and considered to be a major yield limiting factor for crop plant. The tolerance to these stresses is a very complex phenomenon involving a wide array of molecular, biochemical and physiological changes in plant cells. Therefore, it is challenging to understand the molecular basis of abiotic stress tolerance to manipulate it for improving abiotic stress tolerance of major crops. Biotechnological approaches and genetic engineering including homologous gene overexpression can be implemented to understand gene functions under well-defined conditions. The Pathogenesis-related proteins (PR10) such as PR10a play multiple roles in biotic and abiotic stress tolerance and, hence, plant development. A <em>PR10a</em> gene from potato cv. Deseree was introduced into three cultivars of potato (<em>Solanum tuberosum</em> L.) by <em>Agrobacterium tumefaciens</em>-mediated genetic transformation. Transgenic plants were selected on a medium containing 1.0 mg/l phosphinothricin (PPT) and confirmed by polymerase chain reaction (PCR), herbicide (BASTA®) leaf paint assay, and Real-Time- quantitative PCR analyses (qPCR). All of the selected transformants showed completely tolerance to the application of PPT application. Experiments designed for testing salt tolerance revealed that there was enhanced salt tolerance of the transgenic lines <em>in vitro</em> in terms of morphological (plant FW, plant DW and plant height) and antioxidant activates as compared to the non-transgenic control plants. qRT-PCR showed that the expression of <em>PR10a</em> gene in the transgenic potato is higher than that in non-transgenic control under salt stress. The relative <em>PR10a</em> gene-expression patterns in the transgenic plants shed lights into the molecular response of homologues overexpressed <em>PR10a</em> potato to salt-stress conditions. The obtained results provide insights on the fact that <em>PR10a</em> plays a major role regarding salt stress tolerance in potato plants.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100437"},"PeriodicalIF":3.5,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142659010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Scaled codon usage similarity index: A comprehensive resource for crop plants 标度密码子使用相似性指数:作物植物的综合资源
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-13 DOI: 10.1016/j.jgeb.2024.100441
Taniya Bargoti , Divya Pratap Nain , Rajesh Kumar , Amit Kumar Awasthi , Deepali Singh , Vikrant Nain
{"title":"Scaled codon usage similarity index: A comprehensive resource for crop plants","authors":"Taniya Bargoti ,&nbsp;Divya Pratap Nain ,&nbsp;Rajesh Kumar ,&nbsp;Amit Kumar Awasthi ,&nbsp;Deepali Singh ,&nbsp;Vikrant Nain","doi":"10.1016/j.jgeb.2024.100441","DOIUrl":"10.1016/j.jgeb.2024.100441","url":null,"abstract":"<div><div>Over the past three decades species-specific codon usage bias has been used to optimize heterologous gene expression in the target host. However, synthesizing codon optimized gene for multiple species is not achievable due to the prohibitive expense of DNA synthesis. To address this challenge, grouping species with similar codon usage can reduce the need for species-specific codon optimised gene synthesis. We introduced Scaled Codon Usage Similarity (SCUS) index to standardize species similarity assessments based on codon usage profiles. By analysing the SCUS index of 77 plant nuclear genomes from 13 families, we identified codon usage patterns and similarities. We developed an online SCUS index database and a Consensus Relative Synonymous Codon Usage (CRSCU) calculator, available at <span><span>https://pcud.plantcodon.info</span><svg><path></path></svg></span>. The CRSCU calculator helps determine the most suitable codon usage pattern among two or more species. The SCUS index and CRSCU calculator will facilitate the development of multi-species expression systems, enabling the efficient expression of a single synthetic gene across various crop species. This innovation paves the way for cost-effective and efficient heterologous gene expression across diverse crop species.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100441"},"PeriodicalIF":3.5,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142659013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
In silico and cheminformatics prediction with experimental validation of an adipogenesis cocktail, sorafenib with rosiglitazone for HCC dedifferentiation 通过硅学和化学信息学预测以及实验验证脂肪生成鸡尾酒、索拉非尼和罗格列酮对 HCC 的去分化作用
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-12 DOI: 10.1016/j.jgeb.2024.100429
Aya Anis , Ahmed M. Mostafa , Mariam S. Kerema , Nadia M. Hamdy , Ahmed S. Sultan
{"title":"In silico and cheminformatics prediction with experimental validation of an adipogenesis cocktail, sorafenib with rosiglitazone for HCC dedifferentiation","authors":"Aya Anis ,&nbsp;Ahmed M. Mostafa ,&nbsp;Mariam S. Kerema ,&nbsp;Nadia M. Hamdy ,&nbsp;Ahmed S. Sultan","doi":"10.1016/j.jgeb.2024.100429","DOIUrl":"10.1016/j.jgeb.2024.100429","url":null,"abstract":"<div><h3>Purpose</h3><div>Hepatocellular carcinoma (HCC) resistance to sorafenib treatment and other treatment strategies causes a higher mortality rate in patients diagnosed with HCC.</div><div>Research question.</div><div>HCC often develops resistance to sorafenib treatment and other therapies, leading to increased mortality rates in diagnosed patients. Herein, we propose a combined therapeutic approach using rosiglitazone, a key factor in cellular differentiation, along with adipogenesis inducers such as dexamethasone, IBMX, and insulin. Additionally, we included sorafenib, a primary drug for liver cancer treatment, in this combination cocktail and carried out the differentiation process in the presence of sorafenib.</div></div><div><h3>Results</h3><div>Our study demonstrates that this combination induces the formation of adipocytes from HCC cells over several days under specific conditions and steps. Conclusion. findings suggest that supplementing sorafenib with rosiglitazone and adipogenesis inducers may potentially transform HCC cells into adipocyte-like cells. Fat could be “the good” in the story of liver cancer alleviation, demonstrating the role of rosiglitazone.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100429"},"PeriodicalIF":3.5,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142659008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlation and regression analysis of GH and IGF-1 genes in Liaoning cashmere goats with body size and other production performance 辽宁绒山羊 GH 和 IGF-1 基因与体型及其他生产性能的相关性和回归分析
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-12 DOI: 10.1016/j.jgeb.2024.100440
Yining Liu , Lingchao Kong , Siyi Li , Lingjun Nie , Junjie Gao , Shuaitong Li , Yuan Pan , Qingkun Liu , Zeying Wang
{"title":"Correlation and regression analysis of GH and IGF-1 genes in Liaoning cashmere goats with body size and other production performance","authors":"Yining Liu ,&nbsp;Lingchao Kong ,&nbsp;Siyi Li ,&nbsp;Lingjun Nie ,&nbsp;Junjie Gao ,&nbsp;Shuaitong Li ,&nbsp;Yuan Pan ,&nbsp;Qingkun Liu ,&nbsp;Zeying Wang","doi":"10.1016/j.jgeb.2024.100440","DOIUrl":"10.1016/j.jgeb.2024.100440","url":null,"abstract":"<div><div>Liaoning cashmere goat is an important livestock breed in the world. Its economic value is not only reflected in the production of high-quality cashmere, but also its meat production performance is increasingly attracting attention. In order to more comprehensively explore the economic traits of Liaoning cashmere goats, we mainly carry out research on increasing the body size and meat production performance of Liaoning cashmere goats. In the early stage, through multi-omics joint analysis of muscle tissues at different parts and different developmental stages, the important functional genes <em>GH</em> and <em>IGF-1</em> for growth and development were determined. Then, genotyping of DNA in the experimental population and correlation analysis between SNP and production performance were carried out by PCR-seq. One SNP site G350A was detected in the <em>GH</em> gene. Only one genotype AG was identified in rams. In ewes, the GG genotype is the dominant genotype for body size and production performance, and the AG genotype is the dominant genotype for slaughter production performance. One SNP site C5464T was detected in the <em>IGF-1</em> gene. In rams, the TT genotype is the dominant genotype for body size and slaughter production performance. In ewes, the CT genotype is the dominant genotype for body size and slaughter production performance. The dominant haplotype combination for body size and slaughter production performance of rams is AGTT. The dominant haplotype combination for body size production performance of ewes is GGCT, and the dominant haplotype combination for slaughter performance is AGCT. This study provides a theoretical basis for genetic improvement and breeding programs of Liaoning cashmere goats.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100440"},"PeriodicalIF":3.5,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142659009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants 杜氏肌肉萎缩症的基因组学研究:对 1250 名患者的分析揭示了 30% 的新遗传模式和 6 个新变体
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-11 DOI: 10.1016/j.jgeb.2024.100436
Khalda Amr , Nagia Fahmy , Ghada El-Kamah
{"title":"Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants","authors":"Khalda Amr ,&nbsp;Nagia Fahmy ,&nbsp;Ghada El-Kamah","doi":"10.1016/j.jgeb.2024.100436","DOIUrl":"10.1016/j.jgeb.2024.100436","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD/BMD) is the most common type of muscular dystrophy, together with Becker muscular dystrophy represent more than half of all cases. DMD is a single-gene, X-linked recessive disorder that predominantly affects boys, causing progressive muscle deterioration and eventually leading to fatal cardiopulmonary complications. This study aimed to implement a cost-effective molecular diagnostic method using the SALSA MLPA Kit (probe mixes 034 and 035) to screen a large group of Egyptian DMD patients. The study included 1250 clinically diagnosed DMD males, following complete family history, pedigree analyses and an accurate clinical examination and laboratory investigations mainly considering high levels of creatine phosphokinase (&gt;2000 U/L). We also analysed the carrier status of 100 mothers of 100 probands to gauge the inherited mutation through their patients with familial disease. The negative results of MLPA were further analysed with NGS for ten patients and the results were validated for novel missense mutations, phenotype-genotype correlations were analysed using PolyPhen2 and mutation taster.</div><div><strong>Results</strong> SALSA MLPA analysis confirmed the diagnoses in 733/1250 (58.6 %) DMD patients and the remaining of 517/1250 (41.4%) were negative. DMD patients having large deletions were 632/1250 (50.6%) while duplications occurred in 101/1250 (8%). The most common single exon deletion was 45 (50/632, 7.9%). In addition, 163 different deletion and duplication patterns were characterized among positive MLPA analyses. 30% of our studied cohort exhibited new patterns of rearragements in addition to seven cases of double deletion and duplication rearrangements identified, within nine patients. Using NGS, for small mutations detection, revealed six novel and three previously reported mutations among screened ten patients.</div><div><strong>In conclusion</strong>, our findings expand the spectrum of known DMD mutations by offering an effective diagnostic method and identifying novel point mutations through NGS analysis. We recommend using NGS to uncover uncharacterized mutations in patients who test negative with MLPA, which could contribute to the treatment of DMD.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100436"},"PeriodicalIF":3.5,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142658979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences 范可尼贫血症的 DNA 表型和基因内缺失突变图谱:模式和诊断推论
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-08 DOI: 10.1016/j.jgeb.2024.100435
Rehab Mosaad , Ghada El-Kamah , Maha Eid , Khalda Amr
{"title":"DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences","authors":"Rehab Mosaad ,&nbsp;Ghada El-Kamah ,&nbsp;Maha Eid ,&nbsp;Khalda Amr","doi":"10.1016/j.jgeb.2024.100435","DOIUrl":"10.1016/j.jgeb.2024.100435","url":null,"abstract":"<div><h3>Background</h3><div>Fanconi anemia is a genetically heterogeneous recessive disorder distinguished by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and disturbed DNA repair. To date, Fanconi anemia complementation group (FANC) includes 23 FANC genes identified of which, <em>FANCA</em> gene is the most commonly mutated. The mutation spectrum of the <em>FANCA</em> gene is highly heterogeneous with large intragenic deletions due to Alu elements-mediated recombination.</div><div>The study aimed to identify different deletion mutations on <em>FANCA</em> gene in Egyptian Fanconi anemia patients by multiplex ligation-dependent probe amplification (MLPA) technique to define the spectrum of FA molecular pathology as a step for disease control. The study included 80 FA patients (36 females and 44 males) whose ages ranged from 4 months to 17 years descending from unrelated consanguineous families referred to the Hereditary Blood Disorders Clinic, National Research Centre (NRC), Egypt. Patients were diagnosed with classical clinical presentation of FA and were confirmed by chromosomal breakage using Diepoxybutane (DEB).</div></div><div><h3>Results</h3><div>The common clinical presentation in our FA patients were the presence of café au lait spots with hyperpigmentation in 65/80 (81%) followed by skeletal defects in 40/80 (50%). MLPA revealed a total of five different intragenic homozygous deletions of <em>FANCA</em> gene in 16 /80 (20%) patients, among them two deletion patterns were novel.</div></div><div><h3>Conclusion</h3><div>Molecular analysis using MLPA could detect pathogenic mutations in 20% of FA patients, our study generated considerable data on causative mutations that was used for genetic counseling and prenatal diagnosis.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100435"},"PeriodicalIF":3.5,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142658980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlation and regression analysis of KRT35 and TCHHL1 functional genes for cashmere fineness in Liaoning cashmere goats KRT35 和 TCHHL1 功能基因与辽宁绒山羊羊绒细度的相关性和回归分析
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-11-06 DOI: 10.1016/j.jgeb.2024.100434
Weihang Hong , Hua Ma , Lingjun Nie , Shuaitong Li , Lingchao Kong , Ran Duan , Qingyu Yuan , Qiying Zhan , Jinghan Wang , Yuyan Cong , Zeying Wang
{"title":"Correlation and regression analysis of KRT35 and TCHHL1 functional genes for cashmere fineness in Liaoning cashmere goats","authors":"Weihang Hong ,&nbsp;Hua Ma ,&nbsp;Lingjun Nie ,&nbsp;Shuaitong Li ,&nbsp;Lingchao Kong ,&nbsp;Ran Duan ,&nbsp;Qingyu Yuan ,&nbsp;Qiying Zhan ,&nbsp;Jinghan Wang ,&nbsp;Yuyan Cong ,&nbsp;Zeying Wang","doi":"10.1016/j.jgeb.2024.100434","DOIUrl":"10.1016/j.jgeb.2024.100434","url":null,"abstract":"<div><div>Liaoning cashmere goat (LCG) is the world’s highest cashmere producing white cashmere goat. It has the characteristics of long cashmere fiber, high net cashmere rate, moderate cashmere fineness, white cashmere, strong size, strong adaptability, stable genetic performance, and good effect in improving middle and low production cashmere goat. It is known as “National treasure of China”. With LCG as the paternal parent, five new local breeds have been cultivated, which has made outstanding contributions to the improvement and breeding of Chinese cashmere goat breeds. LCG cashmere has moderate fineness (the average fineness of cashmere of LCG population is about 16 µm).However, as a slightly coarse textile raw material, we hope to identify the key genes regulating cashmere fineness through PCR-seq and MLR, in order to reduce cashmere fineness.We collected and extracted DNA from the blood of Liaoning cashmere goats, designed primers, PCR amplification, and Statistical analysis. It was found that the the AA genotype of the G3667A locus of the <em>KRT35</em> gene, CT genotype of the T615C locus of the <em>TCHHL1</em> gene in bucks and the CC genotype of does, as well as CT genotype of the T615C locus of the <em>TCHHL1</em> gene in bucks and the CC genotype of does are dominant genotypes in cashmere fineness. The dominant haplotype combination with multiple factors and effects of cashmere fineness has been determined to be CTGG in bucks and TTGG in does. There was a significant linear regression relationship between the fineness of cashmere in LCG and the cashmere rate and cashmere quantity. There is a significant linear regression relationship between the fineness of LCG and the cashmere rate and cashmere quantity. CF = 0.001SQ-0.71CY + 20.784 (R<sup>2</sup> = 0.818) in buck and CF = 0.001SQ-0.767CY + 22.009 (R<sup>2</sup> = 0.863) in doe. Conclusion: The AA genotype of <em>KRT35</em> gene, CT genotype of <em>TCHHL1</em> gene in bucks and CC genotype of does can be used as molecular markers to assist in the selection of cashmere fineness.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"22 4","pages":"Article 100434"},"PeriodicalIF":3.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mapping proteomic response to salinity stress tolerance in oil crops: Towrads enhanced plant resilience 绘制油料作物耐盐碱胁迫的蛋白质组响应图:韬光养晦增强植物抗逆性
IF 3.5
Journal of Genetic Engineering and Biotechnology Pub Date : 2024-10-30 DOI: 10.1016/j.jgeb.2024.100432
Sarah Alrajeh , Muhammad Naveed Khan , Aidhya Irhash Putra , Dhafar N. Al-ugaili , Khalid H. Alobaidi , Othman Al Dossary , Jameel R. Al-Obaidi , Azi Azeyanty Jamaludin , Mohammed Yahya Allawi , Bilal Salim Al-Taie , Norafizah Abdul Rahman , Norasfaliza Rahmad
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