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Progress in clinical characteristics of high myopia with primary open-angle glaucoma. 高度近视合并原发性开角型青光眼的临床特征研究进展。
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-05-27 DOI: 10.1080/02648725.2023.2218765
Yao Lu, Zhi Ji, Jun Jia, Rui Shi, Ying Liu, Qiong Shu, Fulin Lu, Teng Ge, Yuan He

High myopia (HM) is a significant risk factor for the occurrence and progression of primary open-angle glaucoma (POAG). Identification with POAG in the HM population is an emergent challenge. Patients with HM have a significantly higher probability of complicating POAG than those without HM. When HM is associated with POAG, the changes to the fundus caused by both of them are confused with each other, making the diagnosis of early glaucoma difficult. This article reviews available researches on HM with POAG, summarizing the characteristics of the fundus structure such as epidemiology, intraocular pressure, optic disc, ganglion cell layer, retinal nerve fiber layer, vascular density, and visual field.

高度近视(HM)是原发性开角型青光眼(POAG)发生和发展的重要危险因素。在 HM 患者中识别 POAG 是一项紧迫的挑战。HM 患者并发 POAG 的概率明显高于非 HM 患者。当 HM 伴有 POAG 时,两者引起的眼底变化会相互混淆,从而使早期青光眼的诊断变得困难。本文回顾了现有的关于 HM 合并 POAG 的研究,总结了眼底结构的特点,如流行病学、眼压、视盘、神经节细胞层、视网膜神经纤维层、血管密度和视野。
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引用次数: 0
Based on P (cv-a) CO2/C (a-cv) O2 and its changes are associated with an early reduction in multiple organ failure in patients with septic hyperlactocidemia. 基于 P (cv-a) CO2/C (a-cv) O2,其变化与脓毒症高乳酸血症患者多器官衰竭的早期缓解有关。
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-05-25 DOI: 10.1080/02648725.2023.2216541
Dan Lv, Changqing Zhu, Keji Zhang

                The study aimed to investigate the relationship between the respiratory quotient (RQ), measured by the central venous-arterial carbon dioxide partial pressure difference/arterial-venous oxygenation difference ratio, and the early remission of multi-organ failure (MOF) in sepsis patients with hyperlactatemia. The study observed 49 septic patients with hyperlactatemia in the ICU, obtaining blood samples before and after resuscitation, and dividing the patients into two groups depending on whether the modified Sequential Organ Failure Assessment score improved after 24 hours of treatment. Results showed that lactate clearance was faster and the rate of change in RQ was higher in the improved group than in the unimproved group. Further analysis showed that an RQ ≤0.198 mmHg/mL/L or a change of ≥30.71% in RQ after 24 hours of resuscitation was associated with early improvement in MOF. In conclusion, changes in RQ were associated with early improvement in MOF in septic patients with hyperlactatemia, suggesting that RQ could be used as a potential marker for predicting early remission and guiding clinical interventions.

该研究旨在探讨中心静脉-动脉二氧化碳分压差/动脉-静脉氧合差比值测量的呼吸商(RQ)与高乳酸血症脓毒症患者多器官功能衰竭(MOF)早期缓解之间的关系。研究观察了重症监护室中 49 名患有高乳酸血症的脓毒症患者,在复苏前后采集了血液样本,并根据治疗 24 小时后改良的序贯器官衰竭评估评分是否改善将患者分为两组。结果显示,与未改善组相比,改善组的乳酸清除率更快,RQ 的变化率更高。进一步分析表明,复苏 24 小时后 RQ≤0.198 mmHg/mL/L 或 RQ 变化≥30.71% 与 MOF 早期改善有关。总之,RQ的变化与高乳酸血症脓毒症患者MOF的早期改善有关,这表明RQ可作为预测早期缓解和指导临床干预的潜在标志物。
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引用次数: 0
Application of CECT, CEMRI, and contrast-enhanced ultrasonography in the evaluation of renal cystic lesions: a systematic review and meta-analysis of retrospective studies. CECT、CEMRI 和对比增强超声造影在肾囊肿病变评估中的应用:回顾性研究的系统回顾和荟萃分析。
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-05-27 DOI: 10.1080/02648725.2023.2215640
Peipei Feng, Libo Yu, Peng Liang

The purpose of this meta-analysis was to investigate the role and effect of CECT, CEMRI and CEUS in the detection of renal cystic lesions, and to provide evidence-based basis for clinical examination and treatment. The Cochrane Library, EMBASE, and PUBMED databases were searched from January 2012 to December 2022 for article retrieval. The articles on the treatment of cystic renal disease were searched. According to the inclusion criteria, the included articles were evaluated with the Jad scale and Cochrane manual version 5.1, and the included articles was analyzed by Review Manager 5.4.1. A total of ten relevant articles were included in this meta-analysis. The results of this meta-analysis indicated that CEUS had high sensitivity and specificity in diagnosing renal cystic lesions, which was statistically significant.

本荟萃分析旨在研究CECT、CEMRI和CEUS在检测肾囊肿病变中的作用和效果,为临床检查和治疗提供循证依据。从 2012 年 1 月到 2022 年 12 月,我们在 Cochrane Library、EMBASE 和 PUBMED 数据库中检索了相关文章。检索了有关囊性肾病治疗的文章。根据纳入标准,采用 Jad 量表和 Cochrane 手册 5.1 版对纳入文章进行评估,并使用 Review Manager 5.4.1 对纳入文章进行分析。本次荟萃分析共纳入了 10 篇相关文章。荟萃分析结果表明,CEUS在诊断肾囊肿病变方面具有较高的敏感性和特异性,且具有统计学意义。
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引用次数: 0
Data-based analysis of psychological and emotional changes in breast cancer patients at different ages before and after surgery. 基于数据分析不同年龄乳腺癌患者手术前后的心理和情绪变化。
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-05-18 DOI: 10.1080/02648725.2023.2207936
Songling Liu, Yue Wan, Xi Yu, Yalin Zhang, Lin Shen, Tianhui Su, Xiao Zou, Zheng Yan, Kaihua Zhao

To analyze psychological and emotional changes in breast cancer patients at different ages before and after surgery based on data. The clinical data of 363 patients undergoing radical mastectomy for breast cancer in our hospital from December 2019 to December 2021 were selected for retrospective analysis. The patients' psychological and emotional changes before and after surgery were evaluated with the mental health symptom self-rating scale, and patients' quality of life was assessed by World Health Organization Quality of Life (WHOQOL)-BREF. On a whole, no significant differences in the patients' scores on somatization, interpersonal sensitivity, dreadness and others before and after surgery were observed (P > 0.05), while their scores on obsessive-compulsive symptom, depression, anxiety, hostility, paranoid ideation and psychopathy as well as the total scores were significantly different (P < 0.05); before and after surgery, patients' psychological scores were not significantly different among the five groups (P > 0.05), but various WHOQOL-BREF scores were significantly different (P < 0.05). Surgical treatment has little impact on the psychological mood of breast cancer patients, obvious difference in quality of life is presented among patients at different ages before and after surgery, and therefore targeted clinical intervention should be given.

摘 要】目的:根据数据分析不同年龄段乳腺癌患者术前术后的心理情绪变化。选取我院2019年12月至2021年12月363例乳腺癌根治术患者的临床资料进行回顾性分析。采用心理健康症状自评量表评估患者术前术后的心理和情绪变化,采用世界卫生组织生活质量(WHOQOL)-BREF评估患者的生活质量。从整体上看,患者手术前后在躯体化、人际关系敏感性、恐惧感和其他方面的得分无明显差异(P>0.05),而在强迫症状、抑郁、焦虑、敌意、偏执意念和精神病态方面的得分及总分有明显差异(P>0.05),但 WHOQOL-BREF 各项得分有明显差异(P<0.05)。
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引用次数: 0
Deciphering sperm functions using biological networks. 利用生物网络解密精子功能。
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-02-01 DOI: 10.1080/02648725.2023.2168912
Naseer A Kutchy, Olanrewaju B Morenikeji, Aylin Memili, Muhammet R Ugur

The global human population is exponentially increasing, which requires the production of quality food through efficient reproduction as well as sustainable production of livestock. Lack of knowledge and technology for assessing semen quality and predicting bull fertility is hindering advances in animal science and food animal production and causing millions of dollars of economic losses annually. The intent of this systemic review is to summarize methods from computational biology for analysis of gene, metabolite, and protein networks to identify potential markers that can be applied to improve livestock reproduction, with a focus on bull fertility. We provide examples of available gene, metabolic, and protein networks and computational biology methods to show how the interactions between genes, proteins, and metabolites together drive the complex process of spermatogenesis and regulate fertility in animals. We demonstrate the use of the National Center for Biotechnology Information (NCBI) and Ensembl for finding gene sequences, and then use them to create and understand gene, protein and metabolite networks for sperm associated factors to elucidate global cellular processes in sperm. This study highlights the value of mapping complex biological pathways among livestock and potential for conducting studies on promoting livestock improvement for global food security.

全球人口呈指数级增长,这就要求通过高效繁殖生产优质食品,并实现牲畜的可持续生产。评估精液质量和预测公牛繁殖力的知识和技术的缺乏阻碍了动物科学和食用动物生产的进步,每年造成数百万美元的经济损失。本系统综述旨在总结计算生物学分析基因、代谢物和蛋白质网络的方法,以确定可用于改善家畜繁殖的潜在标记物,重点关注公牛的繁殖力。我们举例说明了现有的基因、代谢和蛋白质网络以及计算生物学方法,以说明基因、蛋白质和代谢物之间的相互作用如何共同推动精子发生的复杂过程并调节动物的生育能力。我们展示了如何利用美国国家生物技术信息中心(NCBI)和Ensembl查找基因序列,然后利用它们创建和理解精子相关因子的基因、蛋白质和代谢物网络,从而阐明精子的全局细胞过程。这项研究凸显了绘制家畜复杂生物通路图的价值,以及为全球粮食安全促进家畜改良开展研究的潜力。
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引用次数: 0
Expression of lncRNA DLX6-AS1 in patients with hepatic carcinoma and its prognostic value. 肝癌患者中 lncRNA DLX6-AS1 的表达及其预后价值。
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-04-20 DOI: 10.1080/02648725.2023.2204706
Yonghua Lin, Baoyan Zhang, Linfeng Su, Jianfeng Wei, Zhichao Chen, Min Wu

Hepatic carcinoma (HCC) is one of the most common malignant tumors worldwide, and the prognosis of HCC patients is often poor. Long-chain non-coding RNA (lncRNA) distal-less homeobox 6 antisense 1 (DLX6-AS1) has been shown to be involved in the pathogenesis of various cancers. This study aims to investigate the expression of DLX6-AS1 in HCC patients and its prognostic value. The serum DLX6-AS1 was quantified using a reverse transcription-polymerase chain reaction (RT-PCR) assay in both HCC patients and healthy individuals, and the correlation of DLX6-AS1 with clinicopathological features of HCC patients, as well as the diagnostic and prognostic value of DLX6-AS1 for HCC patients, were analyzed. The results showed that the expression of serum DLX6-AS1 in HCC patients was significantly higher than that of healthy individuals (P < 0.05), and DLX6-AS1 was related to tumor differentiation, pathological staging, and lymph node metastasis (all P < 0.05). Patients with high DLX6-AS1 expression showed significantly higher mortality than those with low DLX6-AS1 expression, and the DLX6-AS1 expression in dead patients was significantly higher than that in living patients. Furthermore, the AUC of DLX6-AS1 for poor prognosis of HCC patients was larger than 0.8. The univariate analysis revealed that the poor prognosis of HCC patients was related to pathological staging, lymph node metastasis, differentiation, and DLX6-AS1 expression (all P < 0.05), and the Cox multivariate analysis revealed that pathological staging, lymph node metastasis, differentiation, and DLX6-AS1 expression were independent risk factors for poor prognosis of HCC patients (all P < 0.05). These findings suggest that DLX6-AS1 may be a promising target for diagnosis, treatment, and prognosis prediction of HCC patients.

肝癌(HCC)是全球最常见的恶性肿瘤之一,HCC 患者的预后往往很差。长链非编码 RNA(lncRNA)无远端同源染色体 6 反义 1(DLX6-AS1)已被证明参与了多种癌症的发病机制。本研究旨在探讨 DLX6-AS1 在 HCC 患者中的表达及其预后价值。研究采用反转录聚合酶链反应(RT-PCR)方法对 HCC 患者和健康人的血清 DLX6-AS1 进行了定量分析,并分析了 DLX6-AS1 与 HCC 患者临床病理特征的相关性,以及 DLX6-AS1 对 HCC 患者的诊断和预后价值。结果显示,HCC 患者血清中 DLX6-AS1 的表达明显高于健康人(P P P P P
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引用次数: 0
Fabrication of ZnO/Gypsum/Gelatine nanocomposites films and their antibacterial mechanism against Staphylococcus aureus. 氧化锌/石膏/明胶纳米复合材料薄膜的制备及其对金黄色葡萄球菌的抗菌机制
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-05-27 DOI: 10.1080/02648725.2023.2216419
Susanta Kumar Behera, Mashael Huwaikem, Bhumika Jena, Maulin P Shah, Sankha Chakrabortty, Suraj K Tripathy, Amrita Mishra

Staphylococcus aureus (S. aureus) has long been acknowledged as being one of the most harmful bacteria for human civilization. It is the main contributor to skin and soft tissue infections. The gram positive pathogen also contributes to bloodstream infections, pneumonia, or bone and joint infections. Hence, developing an efficient and targeted treatment for these illnesses is greatly desired. Recently, studies on nanocomposites (NCs) have significantly increased due to their potent antibacterial and antibiofilm properties. These NCs provide an intriguing way to control the growth of bacteria without causing the development of resistance strains that come from improper or excessive use of the conventional antibiotics. In this context, we have demonstrated the synthesis of a NC system by precipitation of ZnO nanoparticles (NPs) on Gypsum followed by encapsulation with Gelatine, in the present study. Fourier transform infrared (FTIR) spectroscopy was used to validate the presence of ZnO NPs and Gypsum. The film was characterized by X-ray diffraction (XRD) spectroscopy and scanning electron microscopy (SEM). The system exhibited promising antibiofilm action and was effective in combating S. aureus and MRSA in concentrations between 10 and 50 ug/ml. The bactericidal mechanism by release of reactive oxygen species (ROS) was anticipated to be induced by the NC system. Studies on cell survival and in-vitro infection support the film's notable biocompatibility and its potential for treating Staphylococcus infections in the future.

金黄色葡萄球菌(S. aureus)一直被认为是对人类文明最有害的细菌之一。它是皮肤和软组织感染的主要致病菌。这种革兰氏阳性病原体也会导致血流感染、肺炎或骨关节感染。因此,开发一种高效、有针对性的方法来治疗这些疾病是非常必要的。最近,由于纳米复合材料(NC)具有强大的抗菌和抗生物膜特性,对其进行的研究大幅增加。这些纳米复合材料为控制细菌生长提供了一种令人感兴趣的方法,同时又不会因不当或过度使用传统抗生素而产生抗药性菌株。在此背景下,我们在本研究中展示了通过在石膏上沉淀氧化锌纳米颗粒 (NPs),然后用明胶封装而合成的 NC 系统。傅立叶变换红外光谱(FTIR)用于验证氧化锌纳米粒子和石膏的存在。X 射线衍射(XRD)光谱和扫描电子显微镜(SEM)对薄膜进行了表征。该系统表现出良好的抗生物膜作用,在 10 至 50 微克/毫升的浓度范围内能有效对抗金黄色葡萄球菌和 MRSA。预计数控系统会通过释放活性氧(ROS)诱导杀菌机制。对细胞存活和体外感染的研究支持了薄膜显著的生物相容性及其未来治疗葡萄球菌感染的潜力。
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引用次数: 0
Application of Shouwu Yizhi prescription in decubation of patients with ischemic stroke. 首乌翼方在缺血性脑卒中患者拔管中的应用
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-04-17 DOI: 10.1080/02648725.2023.2203005
Chao Chen, Guangqing Cheng, Ruiqi Jia, Aishuai Wang, Anrong Wang, Xiaoni Yang

We investigate the application of Shouwu Yizhi prescription (SYP) in decubation of patients with ischemic stroke (IS). The clinical data of 106 patients recovering from IS who came to our hospital from December 2019 to December 2020 were selected for retrospective analysis, and they were separated into experimental group (n = 53, basic treatment + SYP) and control group (n = 53, basic treatment) based on the principle of random grouping. The clinical indexes such as lipid indexes and neurological disability score (NDS) after treatment were compared between both groups to comprehensively evaluate the clinical effects of different treatment regimens. Except for high-density lipoprotein cholesterol value, the lipid indexes in the experimental group after treatment were remarkably lower than those in the control group (P < 0.001). After treatment, the levels of hypersensitive C-reactive protein, homocysteine and lipoprotein-associated phospholipase A2 were remarkably lower in the experimental group than control group (P < 0.05). After treatment, the experimental group had remarkably higher mean scores of Montreal Cognitive Assessment, Fugl-Meyer Assessment in upper and lower limbs and lower NDS than control group (P < 0.001). SYP is an efficient treatment plan in decubation of IS, which can effectively improve the blood lipid indexes and neurological function of patients, and further studies will help establish a better solution for such patients.

我们研究了首乌益智方(SYP)在缺血性脑卒中(IS)患者解表中的应用。选取2019年12月-2020年12月来我院就诊的106例IS康复期患者的临床资料进行回顾性分析,按照随机分组的原则将其分为实验组(n=53,基础治疗+SYP)和对照组(n=53,基础治疗)。比较两组患者治疗后的血脂指标、神经系统残疾评分(NDS)等临床指标,综合评价不同治疗方案的临床效果。除高密度脂蛋白胆固醇值外,实验组治疗后血脂指标明显低于对照组(P P P
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引用次数: 0
Endophytic fungi associated with Brucea mollis Wall. ex Kurz.: a hidden source of antimicrobial and antioxidant metabolites. 与 Brucea mollis Wall.
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-05-26 DOI: 10.1080/02648725.2023.2216967
Deepanwita Deka, Dhruva Kumar Jha

Geosmithia pallida (KU693285) was isolated from Brucea mollis an endangered medicinal plant of North-East India. The secondary metabolites, produced by the endophytic fungi, extracted by ethyl acetate were screened for antimicrobial activity. G. pallida extract displayed the highest antimicrobial activity against Candida albicans with a minimum inhibitory concentration of 80.5 ± 1.25 µg/mL. G. pallida also showed the highest antioxidant activity which differed insignificantly from Penicillium sp. (P > 0.05). The G. pallida extract also exhibited the highest cellulase activity and also amylase and protease activities. The cytotoxicity assay of the ethyl acetate extract of this endophyte showed negligible effect (1.93 ± 0.42%) on chromosomal aberration as compared to the control (cyclophosphamide monohydrate) (7.20 ± 1.51%). The internal transcribed spacer rDNA sequence of G. pallida was submitted to the NCBI (Accession number KU693285) from India for the first time. The FT-IR spectrophotometry of the bioactive metabolite of G. pallida showed the presence of different functional groups such as alcohol, carboxylic acids, amines, aromatics, alkyl halides, aliphatic amines and alkynes. The GC-MS analysis revealed the presence of acetic acid, 2-phenylethyl ester; tetracosane; cyclooctasiloxane hexadecamethyl; cyclononasiloxane octadecamethyl; octadecanoic acid; phthalic acid, di(2-propylpentyl) ester and nonadecane, 2,6,10,14,18-pentamethyl as the major compounds in the metabolite. The findings of the present work indicated G. pallida as a potential source of important biomolecules without mammalian cytotoxic effects, which can be utilized for pharmaceutical purposes.

从印度东北部的一种濒危药用植物 Brucea mollis 中分离出了 Geosmithia pallida(KU693285)。内生真菌产生的次级代谢产物经乙酸乙酯提取后进行了抗菌活性筛选。G. pallida 提取物对白色念珠菌的抗菌活性最高,最低抑菌浓度为 80.5 ± 1.25 µg/mL。G. pallida 还显示出最高的抗氧化活性,与青霉的差异不明显(P > 0.05)。G. pallida 提取物还显示出最高的纤维素酶活性以及淀粉酶和蛋白酶活性。与对照组(一水环磷酰胺)(7.20 ± 1.51%)相比,这种内生菌的乙酸乙酯提取物的细胞毒性试验显示,其对染色体畸变的影响(1.93 ± 0.42%)可以忽略不计。印度首次向 NCBI 提交了 G. pallida 的内部转录间隔 rDNA 序列(登录号 KU693285)。G. pallida 的生物活性代谢物的傅立叶变换红外分光光度法显示存在不同的官能团,如醇、羧酸、胺、芳烃、烷基卤化物、脂肪胺和炔烃。气相色谱-质谱(GC-MS)分析显示,代谢物中的主要化合物有乙酸 2-苯乙酯、十四烷、环辛基硅氧烷十六甲基、环壬基硅氧烷十八甲基、十八酸、邻苯二甲酸二(2-丙基戊基)酯和壬烷 2,6,10,14,18-五甲基。本研究的结果表明,苍耳子是重要生物大分子的潜在来源,不会对哺乳动物产生细胞毒性作用,可用于制药目的。
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引用次数: 0
Analysis of genetic test results in 378 patients suspected of thalassaemia. 对 378 名地中海贫血症疑似患者的基因检测结果进行分析。
IF 6.5 3区 工程技术 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 Epub Date: 2023-05-24 DOI: 10.1080/02648725.2023.2210015
Jing Jin, Weiying Feng, Zehao Fang, Jiaping Fu, Hongqiang Luo, Pan Hong, Li Hong, Lin Zhang

Objective: To analyze the genetic test results of 378 patients suspected of thalassemia.

Methods: 378 suspected thalassemia patients in Shaoxing People's Hospital from 2014 to 2020 were selected and venous blood was tested using Gap-PCR and PCR-reversed dot blottin. The distribution of genotypes and other information of gene-positive patients was observed.

Results: Thalassemia genes were detected in 222 cases, with an overall detection rate of 58.7%, of which 41.4% were α deletion type, 1.35% were α dot, 52.7% were α thalassemia, and 4.5% were αβ complex type. Among the 86 people with provincial household registration, the α-thalassemia gene accounted for 65.1% and the β-thalassemia gene accounted for 25.6%. Follow-up found that Shaoxing nationality accounted for 53.1% of positive patients, of which β-thalassemia gene accounted for 72.9% and α-thalassemia gene accounted for 25.4%; other cities in the province accounted for 8.1% of the total. Other provinces and cities accounted for 38.7%, most of which were from Guangxi and Guizhou. Among all positive patients, the most common α-thalassemia genotypes were --sea / αα, --α / αα,--α 3.7 4.2 / αα , --α3.7 / --sea. The most common mutations in β-thalassemia were IVS-II-654, CD41-42, CD17 and CD14-15.

Conclusion: The thalassemia gene carrier status was sporadically distributed outside the traditional thalassemia high prevalence areas. The local population in Shaoxing has a high detection rate of thalassemia genes, and the genetic composition is different from the traditional high prevalence area of thalassemia in the south.

目的:分析378例地中海贫血疑似患者的基因检测结果:方法:选取绍兴市人民医院2014-2020年收治的378例地中海贫血疑似患者,采用Gap-PCR和PCR-反向点印迹法对静脉血进行检测。观察基因阳性患者的基因型分布及其他信息:结果:共检出地中海贫血基因222例,总检出率为58.7%,其中α缺失型占41.4%,α点状型占1.35%,α地中海贫血占52.7%,αβ复合型占4.5%。在86名本省户籍患者中,α地中海贫血基因占65.1%,β地中海贫血基因占25.6%。随访发现,阳性患者中绍兴籍占53.1%,其中β地中海贫血基因占72.9%,α地中海贫血基因占25.4%;省内其他地市占8.1%。其他省市占 38.7%,其中大部分来自广西和贵州。在所有阳性患者中,最常见的α地中海贫血基因型为--sea / αα、--α / αα、--α 3.7 4.2 / αα、--α3.7 / --sea。β地中海贫血最常见的基因突变是 IVS-II-654、CD41-42、CD17 和 CD14-15:结论:地中海贫血基因携带者在传统的地中海贫血高发区外呈零星分布。绍兴当地人群地中海贫血基因检出率较高,基因组成与南方传统地中海贫血高发区不同。
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引用次数: 0
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Biotechnology & Genetic Engineering Reviews
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