Global Medical Genetics最新文献

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Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy 婴儿18p染色体缺失综合征和不对称鼻中隔肥厚的表现

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743261

A. Kocaaga, S. Yimenicioglu

The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism. Physical examination of our patient revealed a short stature, intellectual disability, facial dysmorphism (microcephaly, ptosis, epicanthus, low nasal bridge, protruding ears, long philtrum, and thin lips), and clinodactyly of the fifth finger. The peripheral karyotype was 46, XX, del (18) (p11.32p11.2). DNA microarray analysis revealed a de novo 13.9-Mb deletion at 18p11.32p.11.21. Echocardiography revealed asymmetric septal hypertrophy. Congenital cardiac abnormalities are present very rarely in this syndrome. This finding suggests that one locus or loci that play a role in cardiac development is located in this chromosomal region. Although rare, cardiac hypertrophies should be kept in mind when evaluating a patient with phenotypic anomalies and genetic results compatible with an 18p deletion syndrome.

据估计，18p缺失综合征的发生率为～1/50000活产，更常见的是与某些临床特征有关，包括身材矮小、智力残疾和面部畸形。我们的患者体格检查显示身材矮小、智力残疾、面部畸形（小头畸形、上睑下垂、内毛、鼻梁低、耳朵突出、人中长、嘴唇薄）和第五指斜指畸形。外周染色体组型为46，XX，del（18）（p11.32p11.2）。DNA微阵列分析显示在18p11.32p.11.21处有13.9-Mb的从头缺失。超声心动图显示不对称间隔肥大。先天性心脏异常很少出现在这种综合征中。这一发现表明，在心脏发育中起作用的一个或多个基因座位于该染色体区域。尽管罕见，但在评估表型异常和遗传结果与18p缺失综合征兼容的患者时，应牢记心脏肥大。

引用次数: 0

Psoriasis: An Immunogenetic Perspective 银屑病的免疫遗传学研究

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743259

A. Kocaaga, M. Kocaağa

Psoriasis is an erythematous-squamous dermatosis with a polygenic inheritance history. Both environmental and genetic factors play a role in the etiology of the disease. Over the past two decades, numerous linkage analyzes and genome-wide association studies have been conducted to investigate the role of genetic variation in disease pathogenesis and progression. To date, >70 psoriasis susceptibility loci have been identified, including HLA-Cw6, IL12B, IL23R, and LCE3B/3C. Some genetic markers are used in clinical diagnosis, prognosis, treatment, and personalized new drug development that can further explain the pathogenesis of psoriasis. This review summarizes the immunological mechanisms involved in the etiopathogenesis of psoriasis and recent advances in susceptibility genes and highlights new potential targets for therapeutic intervention.

银屑病是一种具有多基因遗传史的红斑性鳞状皮肤病。环境和遗传因素都在疾病的病因中起作用。在过去的二十年里，已经进行了大量的连锁分析和全基因组关联研究，以研究遗传变异在疾病发病机制和进展中的作用。迄今为止，已鉴定出70多个银屑病易感基因座，包括HLA-Cw6、IL12B、IL23R和LCE3B/3C。一些遗传标志物用于临床诊断、预后、治疗和个性化新药开发，可以进一步解释银屑病的发病机制。本文综述了银屑病发病的免疫学机制和易感基因的最新进展，并强调了治疗干预的新靶点。

引用次数: 5

The Human Genetics of Dental Anomalies 牙齿畸形的人类遗传学

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743572

M. Khan, Nadeem Ahmed, P. Neela, Nayeem Unnisa

The development of tooth is a highly complex procedure and mastered by specific genetic programs. Genetic alterations, environmental factors, and developmental timing can disturb the execution of these programs, and result in various dental anomalies like hypodontia/oligodontia, and supernumerary teeth, which are commonly seen in our clinical practice. Advances in molecular research enabled the identification of various genes involved in the pathogenesis of dental anomalies. In the near future, it will help provide a more accurate diagnosis and biological-based treatment for these anomalies. In this article, we present the molecular phenomenon of tooth development and the genetics of various dental anomalies.

牙齿的发育是一个高度复杂的过程，由特定的遗传程序掌握。基因改变、环境因素和发育时机可能会干扰这些程序的执行，并导致各种牙齿异常，如临床实践中常见的缺牙/少牙和多生牙。分子研究的进展使人们能够识别出与牙齿异常发病机制有关的各种基因。在不久的将来，它将有助于为这些异常提供更准确的诊断和基于生物的治疗。在这篇文章中，我们介绍了牙齿发育的分子现象和各种牙齿异常的遗传学。

引用次数: 5

Genetic Variants and Drug Efficacy in Tuberculosis: A Step toward Personalized Therapy 结核病的遗传变异和药物疗效:迈向个体化治疗的一步

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743567

Almas Khan, M. Abbas, Sushma Verma, Shrikant Verma, A. Rizvi, F. Haider, Syed Tasleem Raza, F. Mahdi

Tuberculosis (TB) continues to be a major infectious disease affecting individuals worldwide. Current TB treatment strategy recommends the standard short-course chemotherapy regimen containing first-line drug, i.e., isoniazid, rifampicin, pyrazinamide, and ethambutol to treat patients suffering from drug-susceptible TB. Although Mycobacterium tuberculosis , the causing agent, is susceptible to drugs, some patients do not respond to the treatment or treatment may result in serious adverse reactions. Many studies revealed that anti-TB drug-related toxicity is associated with genetic variations, and these variations may also influence attaining maximum drug concentration. Thus, inter-individual diversities play a characteristic role by influencing the genes involved in drug metabolism pathways. The development of pharmacogenomics could bring a revolution in the field of treatment, and the understanding of germline variants may give rise to optimized targeted treatments and refine the response to standard therapy. In this review, we briefly introduced the field of pharmacogenomics with the evolution in genetics and discussed the pharmacogenetic impact of genetic variations on genes involved in the activities, such as anti-TB drug transportation, metabolism, and gene regulation.

结核病(TB)仍然是影响全世界个人的主要传染病。目前的结核病治疗策略建议采用包含一线药物的标准短期化疗方案，即异烟肼、利福平、吡嗪酰胺和乙胺丁醇来治疗药物敏感结核病患者。虽然致病菌结核分枝杆菌对药物敏感，但一些患者对治疗没有反应或治疗可能导致严重的不良反应。许多研究表明，抗结核药物相关毒性与遗传变异有关，这些变异也可能影响获得最大药物浓度。因此，个体间多样性通过影响参与药物代谢途径的基因发挥了特征性作用。药物基因组学的发展可能会给治疗领域带来一场革命，对种系变异的理解可能会产生优化的靶向治疗，并改进对标准治疗的反应。本文简要介绍了药物基因组学和遗传学的发展，并讨论了遗传变异对抗结核药物转运、代谢和基因调控等相关基因的药物遗传学影响。

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引用次数: 3

Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing 无创产前检测中胎儿微缺失和单基因变异的生物信息学方法比较

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743573

Lizzy Teleboshe Paul, M. C. Ergoren

Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of invasive prenatal diagnostic approaches. However, to facilitate prenatal testing without causing any danger to the fetus, the noninvasive prenatal diagnostic method, which uses circulating cell-free deoxyribonucleic acid (DNA), has become a suitable method of prenatal diagnosis. This review discusses the recent bioinformatics approaches used for analyzing fetal DNA concentration.

产前检查提供了关于胎儿健康状况的重要信息，并建议更好的治疗。在过去的几十年里，使用绒毛膜绒毛取样和羊膜穿刺术进行产前检查是侵入性产前诊断方法的两种主要形式。然而，为了方便产前检查而不对胎儿造成任何危险，利用循环无细胞脱氧核糖核酸(DNA)的无创产前诊断方法已成为一种合适的产前诊断方法。本文综述了近年来用于分析胎儿DNA浓度的生物信息学方法。

引用次数: 0

Determinants in Tailoring Antidiabetic Therapies: A Personalized Approach 定制抗糖尿病治疗的决定因素:个性化方法

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2022-01-01 DOI: 10.1055/s-0041-1741109

A. Rizvi, M. Abbas, Sushma Verma, Shrikant Verma, Almas Khan, Syed Tasleem Raza, F. Mahdi

Diabetes has become a pandemic as the number of diabetic people continues to rise globally. Being a heterogeneous disease, it has different manifestations and associated complications in different individuals like diabetic nephropathy, neuropathy, retinopathy, and others. With the advent of science and technology, this era desperately requires increasing the pace of embracing precision medicine and tailoring of drug treatment based on the genetic composition of individuals. It has been previously established that response to antidiabetic drugs, like biguanides, sulfonylureas, dipeptidyl peptidase-4 (DPP-4) inhibitors, glucagon-like peptide 1 (GLP-1) agonists, and others, depending on variations in their transporter genes, metabolizing genes, genes involved in their action, etc . Responsiveness of these drugs also relies on epigenetic factors, including histone modifications, miRNAs, and DNA methylation, as well as environmental factors and the lifestyle of an individual. For precision medicine to make its way into clinical procedures and come into execution, all these factors must be reckoned with. This review provides an insight into several factors oscillating around the idea of precision medicine in type-2 diabetes mellitus.

随着全球糖尿病患者人数的持续增加，糖尿病已成为一种流行病。作为一种异质性疾病，它在不同的个体中有不同的表现和相关并发症，如糖尿病肾病、神经病变、视网膜病变等。随着科学技术的出现，这个时代迫切需要加快接受精准医学的步伐，并根据个人的基因组成定制药物治疗。先前已经确定，对抗糖尿病药物的反应，如双胍类、磺酰脲类、二肽基肽酶-4（DPP-4）抑制剂、胰高血糖素样肽1（GLP-1）激动剂和其他药物，取决于其转运基因、代谢基因和参与其作用的基因等的变化。这些药物的反应性还依赖于表观遗传因素，包括组蛋白修饰、miRNA和DNA甲基化，以及环境因素和个体的生活方式。精准医学要进入临床程序并付诸实施，必须考虑到所有这些因素。这篇综述深入了解了围绕精准医学治疗2型糖尿病的几个因素。

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引用次数: 2

Contributing Reviewers in 2021 2021年度特约评审员

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2022-01-01 DOI: 10.1055/s-0041-1742284

引用次数: 0

Molecular Detection of blaOXA -type Carbapenemase Genes and Antimicrobial Resistance Patterns among Clinical Isolates of Acinetobacter baumannii 鲍曼不动杆菌blaOXA型碳青霉烯酶基因的分子检测及耐药性分析

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2021-12-01 DOI: 10.1055/s-0041-1740019

M. Kafshnouchi, Marzieh Safari, Amir Khodavirdipour, A. Bahador, S. H. Hashemi, Mohammad Sina Alikhani, M. Saidijam, M. Alikhani

Abstract Acinetobacter baumannii is a bacterium found in most places, especially in clinics and hospitals, and an important agent of nosocomial infections. The presence of class D enzymes such as OXA-type carbapenemases in A. baumannii is proven to have a key function in resistance to carbapenem. The aim of the current study is to determine the blaOXA-type carbapenemase genes and antimicrobial resistance among clinically isolated samples of A. baumannii. We assessed 100 clinically isolated specimens of A. baumannii from patients in intensive care units of educational hospitals of Hamadan, West of Iran. The A. baumannii isolates' susceptibility to antibiotics was performed employing disk diffusion method. Multiplex polymerase chain reaction was used to identify the blaOXA-24-like , blaOXA-23-like , blaOXA-58-like , and blaOXA-51-like genes. The blaOXA-23-like , blaOXA-24-like , and blaOXA-58-like genes' prevalence were found to be 84, 58, and 3%, respectively. The highest coexistence of the genes was for blaOXA-51/23 (84%) followed by blaOXA-51/24-like (58%). The blaOXA-51/23- like pattern of genes is a sort of dominant gene in resistance in A. baumannii from Hamadan hospitals. The highest resistance to piperacillin (83%) and ciprofloxacin (81%) has been observed in positive isolates of blaOXA-23-like . The A. baumannii isolates with blaOXA-58-like genes did not show much resistance to antibiotics. Based on the results of the phylogenetic tree analysis, all isolates have shown a high degree of similarity. This study showed the high frequency of OXA-type carbapenemase genes among A. baumannii isolates from Hamadan hospitals, Iran. Thus, applying an appropriate strategy to limit the spreading of these strains and also performing new treatment regimens are necessary.

摘要鲍曼不动杆菌是一种常见于大多数地方，尤其是诊所和医院的细菌，是医院感染的重要病原体。鲍曼不动杆菌中D类酶如OXA型碳青霉烯酶的存在被证明在对碳青霉烯的抗性中具有关键功能。本研究的目的是确定临床分离的鲍曼不动杆菌样品中blaOXA型碳青霉烯酶基因和耐药性。我们评估了来自伊朗西部哈马丹教育医院重症监护室患者的100份临床分离的鲍曼不动杆菌标本。采用纸片扩散法测定鲍曼分离株对抗生素的敏感性。使用多重聚合酶链式反应来鉴定blaOXA-24样、blaOXA-23样、blaOXA-58样和blaOXA-51样基因。blaOXA-23样、blaOXA24-样和blaOXA-58样基因的患病率分别为84%、58%和3%。基因共存率最高的是blaOXA-51/23（84%），其次是blaOXA-51/24样（58%）。blaOXA-51/23样基因是哈马丹医院鲍曼不动杆菌耐药的一种显性基因。在类似blaOXA-23的阳性分离株中观察到对哌拉西林（83%）和环丙沙星（81%）的最高耐药性。具有blaOXA-58样基因的鲍曼分离株对抗生素没有表现出太大的耐药性。根据系统发育树分析的结果，所有分离株都显示出高度的相似性。本研究表明，OXA型碳青霉烯酶基因在来自伊朗哈马丹医院的鲍曼不动杆菌分离株中的频率很高。因此，应用适当的策略来限制这些菌株的传播，并进行新的治疗方案是必要的。

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引用次数: 3

Epigenetic Approach to PTSD: In the Aspects of Rat Models. 创伤后应激障碍的表观遗传学方法:在大鼠模型方面。

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2021-11-11 eCollection Date: 2022-03-01 DOI: 10.1055/s-0041-1736633

Asli Aykac, Rasime Kalkan

Posttraumatic stress disorder (PTSD) is a stress-related mental disorder and develops after exposure to life-threatening traumatic experiences. The risk factors of PTSD included genetic factors; alterations in hypothalamic-pituitary-adrenal (HPA) axis; neurotrophic, serotonergic, dopaminergic, and catecholaminergic systems; and a variety of environmental factors, such as war, accident, natural disaster, pandemic, physical, or sexual abuse, that cause stress or trauma in individuals. To be able to understand the molecular background of PTSD, rodent animal models are widely used by researchers. When looking for a solution for PTSD, it is important to consider preexisting genetic risk factors and physiological, molecular, and biochemical processes caused by trauma that may cause susceptibility to this disorder. In studies, it is reported that epigenetic mechanisms play important roles in the biological response affected by environmental factors, as well as the task of programming cell identity. In this article, we provided an overview of the role of epigenetic modifications in understanding the biology of PTSD. We also summarized the data from animal studies and their importance during the investigation of PTSD. This study shed light on the epigenetic background of stress and PTSD.

创伤后应激障碍(PTSD)是一种与压力相关的精神障碍，在暴露于危及生命的创伤经历后发展。PTSD的危险因素包括遗传因素;下丘脑-垂体-肾上腺(HPA)轴改变;神经营养系统、血清素系统、多巴胺系统和儿茶酚胺系统;以及各种各样的环境因素，如战争、事故、自然灾害、流行病、身体虐待或性虐待，这些都会给个人造成压力或创伤。为了能够了解PTSD的分子背景，研究者广泛使用啮齿动物模型。在寻找创伤后应激障碍的解决方案时，重要的是要考虑先前存在的遗传风险因素以及创伤引起的生理、分子和生化过程，这些因素可能导致对这种疾病的易感性。研究报道，表观遗传机制在受环境因素影响的生物反应以及细胞身份编程任务中发挥着重要作用。在这篇文章中，我们概述了表观遗传修饰在理解创伤后应激障碍生物学中的作用。我们还总结了动物实验的数据及其在PTSD研究中的重要性。这项研究揭示了应激和创伤后应激障碍的表观遗传背景。

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引用次数: 3

Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period. 先天性心脏病产前基因改变的研究。

IF 1.7 Q4 GENETICS & HEREDITY

Global Medical Genetics

Pub Date : 2021-11-09 eCollection Date: 2022-03-01 DOI: 10.1055/s-0041-1736566

Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Cisem Akurut, Yasemin Ozen, Hakan Gurkan

The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD.

先天性心脏病(CHD)的产前诊断是重要的，因为它有死亡风险。冠心病的发病各不相同，根据畸形类型的不同，发生非整倍体的风险也不同。为了确定冠心病可能的遗传改变，应计划进行g带、染色体微阵列或必要时的DNA突变分析和直接序列分析。在本研究中，对950个样本进行了阵列分析，以确定遗传改变、细胞培养、核型分析和单核苷酸多态性。对23例(2.4%，23/950)CHD胎儿进行了介入产前遗传学检查。23例中有5例(21.7%)检出染色体异常。检测到的染色体异常为10q23.2缺失、18三体、8p22.3-p23.2缺失、8q21.3-q24.3重复、11q24.2q24.5 (9 Mb)缺失、8p22p12 (16.8 Mb)缺失。我们的研究强调了基因检测在冠心病中的重要性。

引用次数: 2

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