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Journal of Forensic Science and Medicine 2018年第3期4卷 115-121,I0001-I0003页

作者： Hui Sun Caiyong Yin Lei Shang Chong Wang Kaiyuan Su Wanshui Li Feng Chen Shilin Li Institute of Forensic Science Ministry of Public SecurityBeijing 100038 department of Forensic Medicine Nanjing Medical UniversityNanjing210029 MOE Key Laboratory of Contemporary Anthropology Department of Anthropology and Human GeneticsSchool of Life SciencesFudan UniversityShanghai200438 Fudan-Taizhou Institute of Health Sciences Jiangsu225300China

For comprehensive understanding of practical application and evaluation on the power of30 commonly used InDeis(Qiagen Investigator DIPplex®kit),we captured population data from 25 Chinese populations and employed F-statistics for population genetics *** results indicated that the distributions of allelic frequencies among populations were in different ***,the phylogeny confoiming pairwise FST distances showed that the difierentiation of majority populations were consistent with their geographic locations and historic *** conduct the comprehensive correlation analysis between FST and heterozygosity of30 InDel loci and provided strong evidence for ongoing InDei loci *** Fst values of 30 InDels were calculated within 25 Chinese populations,and then,these loci were characterized definitely based on their roles in population genetics or individual *** indicated that 17 InDels with FST<0.01 could be utilized regarding Chinese individual identification(total discrimination power=0.999985 and cumulative matching probability=0.00000009).We comprehensively reconstructed the population structure and filled the gap of evaluating the ability of InDels in personal as well as population *** application of InDel loci in the forensic area would convincingly promote the development matter of forensic population identification and personal discrimination.

关键词： Chinese populations insertion and deletion personal Identification population identification Qiagen investigator dipplex®kit

Arabidopsis PTD Is Required for Type Ⅰ Crossover Formation and Affects Recombination Frequency in Two Different Chromosomal Regions

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Journal of genetics and Genomics 2014年第3期41卷 165-175页

作者： Pingli Lu Asela J.Wijeratne Zhengjia Wang Gregory P.Copenhaver Hong Ma Institute of Plant Biology Institute of GeneticsSchool of Life SciencesFudan University department of Biology and the Huck Institutes of the Life Sciences Pennsylvania State UniversityUniversity Park Molecular and Cellular Imaging Center(MCIC) Ohio State University/OARDCWooster School of Forestry and Biotechnology Zhejiang A&F University department of Biology and the Carolina Center for Genome Sciences University of North Carolina at Chapel Hill Lineberger Comprehensive Cancer Center University of North Carolina School of Medicine

In eukaryotes, crossovers together with sister chromatid cohesion maintain physical association between homologous chromosomes, ensuring accurate chromosome segregation during meiosis I and resulting in exchange of genetic information between homologues. The Arabidopsis PTD （Parting Dancers） gene affects the level of meiotic crossover formation, but its functional relationships with other core meiotic genes, such as AtSP011-1, AtRAD51, and AtMSH4, are unclear; whether PTD has other functions in meiosis is also unknown. To further analyze PTD function and to test for epistatic relationships, we compared the meiotic chromosome behaviors ofAtspoll-1 ptd and Atrad51 ptd double mutants with the relevant single mutants. The results suggest that PTD functions downstream of AtSP011-1 and AtRAD51 in the meiotic recombination pathway. Furthermore, we found that meiotic defects in rck pM and Atmsh4 ptd double mutants showed similar meiotic phenotypes to those of the relevant single mutants, providing genetic evidences for roles of PTD and RCK in the type I crossovers pathway. Moreover, we employed a pollen tetrad-based fluorescence method and found that the meiotic crossover frequencies in two genetic intervals were significantly reduced from 6.63% and 22.26% in wild-type to 1.14% and 6.36%, respectively, in the ptd^2 mutant. These results revealed new aspects of PTD function in meiotic crossover formation.

关键词： PTD Meiosis MSH4 Crossover Recombination frequency

Contemporary approach to diagnosis and classification of renal cell carcinoma with mixed histologic features

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Chinese Journal of Cancer 2013年第6期32卷 303-311页

作者： Kanishka Sircar Priya Rao Eric Jonasch Federico A. Monzon Pheroze Tamboli departments of Pathology and the David H. Koch Center for Applied Research of Genitourinary Cancers The University of Texas MD Anderson Cancer CenterHouston TX 77030 USA departments of Genitourinary Medical Oncology and the David H. Koch Center for Applied Research of Genitourinary Cancers The University of Texas MD Anderson Cancer CenterHouston TX 77030 USA department of Pathology and Immunology and department of Human and Molecular genetics Baylor College of MedicineHouston TX 77030 USA

Renal cell carcinoma (RCC) is an important contributor to cancer-specific mortality worldwide. Targeted agents that inhibit key subtype-specific signaling pathways have improved survival times and have recently become part of the standard of care for this disease. Accurately diagnosing and classifying RCC on the basis of tumor histology is thus critical. RCC has been traditionally divided into clear-cell and non-clearcell categories, with papillary RCC forming the most common subtype of non-clear-cell RCC. Renal neoplasms with overlapping histologies, such as tumors with mixed clear-cell and papillary features and hybrid renal oncocytic tumors, are increasingly seen in contemporary practice and present a diagnostic challenge with important therapeutic implications. In this review, we discuss the histologic, immunohistochemical, cytogenetic, and clinicopathologic aspects of these differential diagnoses and illustrate how the classification of RCC has evolved to integrate both the tumor's microscopic appearance and its molecular fingerprint.

关键词：鉴别诊断肾细胞癌症混合分类细胞遗传学肾肿瘤组织学

Insight into the liver dysfunction in COVID-19 patients: Molecular mechanisms and possible therapeutic strategies

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World Journal of Gastroenterology 2023年第14期29卷 2064-2077页

作者： Naina Khullar Jasvinder Singh Bhatti Satwinder Singh Bhawana Thukral P Hemachandra Reddy Gurjit Kaur Bhatti department of Zoology Mata Gujri CollegeFatehgarh Sahib 140407PunjabIndia Laboratory of Translational Medicine and Nanotherapeutics Department of Human Genetics and Molecular MedicineSchool of Health SciencesCentral University of PunjabBathinda 151401PunjabIndia department of Computer Science and Technology Central University of PunjabBathinda 151401PunjabIndia department of Nutrition and Dietetics University Institute of Applied Health SciencesChandigarh UniversityMohali 140413PunjabIndia department of Internal Medicine Texas Tech University Health Sciences CenterLubbockTX 79430United States department of Medical Lab Technology University Institute of Applied Health SciencesChandigarh UniversityMohali 140413PunjabIndia

As of June 2022,more than 530 million people worldwide have become ill with coronavirus disease 2019(COVID-19).Although COVID-19 is most commonly associated with respiratory distress(severe acute respiratory syndrome),metaanalysis have indicated that liver dysfunction also occurs in patients with severe *** studies revealed distinctive patterning in the receptors on the hepatic cells that helps in viral invasion through the expression of angiotensinconverting enzyme *** has also been reported that in some patients with COVID-19,therapeutic strategies,including repurposed drugs(mitifovir,lopinavir/ritonavir,tocilizumab,etc.)triggered liver injury and cholestatic *** proven indicators support cytokine storm-induced hepatic *** there are 1.5 billion patients with chronic liver disease worldwide,it becomes imperative to critically evaluate the molecular mechanisms concerning hepatotropism of COVID-19 and identify new potential *** review also designated a comprehensive outlook of comorbidities and the impact of lifestyle and genetics in managing patients with COVID-19.

关键词： COVID-19 Liver damage Pharmacotherapy Cytokine storm Molecular mechanisms

Induction of mucosai and systemic immune response by single-dose oral immunization with biodegradable microparticles containing DNA encoding HBsAg

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第二军医大学学报 2006年第4期27卷 395-395页

作者： He XW Wang F Jiang L Li J Liu SK Xiao ZY Jin XQ Zhang YN He Y Li K Guo YJ Sun SH department of Medical genetics Second Military Medical UniversityShanghai 200433 China

The purpose of this work was to assess the ability of plasmid DNA encoding hepatitis B virus (HBV) HBsAg encapsulated in poly(DL-lactide-co-glycolic acid) (PLGA) microparticles to induce local and systemic HBsAg-specific immunity following a single dose of oral immunization。RT-PCR analysis demonstrated prolonged transcription of plasmid DNA, consistent with the sustained expression and presentation of target antigen observed by confocal laser scanning microscopy, in gut-associated lymphocyte tissue (GALT) from mice immunized orally with plasmid DNA encapsulated into PLGA microparticles。Oral administration of PLGA-DNA microparticles induced a long-lasting and stable antigen-specific antibody response, both serum total antibody and intestinal IgA, in BALB/c mice。Mice immunized orally exhibited antigen-specific gamma interferon production and cytotoxic T lymphocyte responses in spleen and GALT after restimulation in vitro with HBsAg or tumour cells stably expressing HBsAg。In contrast, naked DNA vaccines given by intramuscular injection induced only systemic cellular and humoral responses to HBsAg, which were much lower than the responses elicited by oral DNA encapsulated in PLGA microparticles at equivalent doses。The results are encouraging with regard to obtaining good compliance and vaccination coverage with candidate plasmid DNA vaccines, especially in developing countries。

关键词：乙型肝炎疫苗/免疫学乙型肝炎病毒/免疫学 DNA 病毒/免疫学质粒抗原抗体反应/药物作用聚乙醇酸/药理学免疫法小鼠近交BALBC 动物小鼠

Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

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Pediatric Investigation 2018年第2期2卷 90-95页

作者： Chanjuan Hao Jun Guo Ruolan Guo Zhan Qi Wei Li Xin Ni Beijing Key Laboratory for genetics of Birth Defects MOE Key Laboratory of Major Diseases in Children Center for Medical Genetics Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijing China Beijing Pediatric Research Institute Department of Otolaryngology Head and Neck Surgery Beijing Children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijing China

Importance:Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical *** condition specifically leads to disordered steroidogenesis,which can affect the development of the reproductive system,skeleton,and other parts of the *** severe form of PORD is difficult to differentiate with Antley-Bixler syndrome (ABS).The genetic characters and clinical evaluation of PORD are still unclear in ***:To perform an exome analysis and identify the pathogenic cause in order to assist clinicians to obtain a proper evaluation on the genetic ***:The proband underwent detailed physical *** of the proband and his parents was isolated and whole-exome sequencing (WES) was *** were analyzed and evaluation according to the ACMG ***:A 1-year-old Chinese boy with midface hypoplasia,choanal stenosis,multiple joint contractures,micropenis and right cryptorchidism was misdiagnosed with Crouzon *** trio-whole-exome sequencing,we identified an unreported compound heterozygous mutation (c.667C＞T,p.R223* and c.1370G＞A,p.R457H) in POR in the *** mutation was inherited from healthy heterozygous parents,supporting the diagnosis of PORD,which was further confirmed by biochemical ***:We have identified a pathogenic variant with an unreported compound heterozygous POR mutation,which expands the clinical and genetic spectra of PORD and emphasizes the usefulness of WES for genetic diagnosis.

关键词： Compound heterozygous mutation Cytochrome P450 oxidoreductase Disordered steroidogenesis POR deficiency Whole-exome sequencing

A Case Report of Rare Acute Ischemic Stroke Due to Meningeal Irritation

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World Journal of Neuroscience 2018年第2期8卷 171-177页

作者： Reem AlSherooqi Jad Alkhoury Moiz Bakhiet department of Internal Medicine King Hamad University Hospital Princess Al-Jawhara Center for Genetics and Inherited Diseases Arabian Gulf University Manama Bahrain department of Molecular Medicine College of Medicine and Medical Sciences Princess Al-Jawhara Center for Genetics and Inherited Diseases Arabian Gulf University Manama Bahrain

Stroke is a rapidly developing symptom or sign of loss of cerebral function secondary to interruption of the blood supply due to a thrombus or hemorrhage. These diseased vessels are usually affected by well-recognized risk factors, but in some cases other rare conditions may be related to stroke development. Herein, we introduce one of these rare stroke conditions in a 37-year-old previously healthy male who presented to the emergency department with misleading symptoms and signs of reduced level of consciousness, isolated medical 3rd nerve palsy and possible drug overdose. A thorough neurological examination and investigation demonstrated a case of acute ischemic stroke as a consequence of meningeal irritation with an underlying inflammatory response. The patient was treated simultaneously for both conditions and responded dramatically with full recovery upon discharge. Thus, consideration of acute stroke in patients with no previous known risk factors is highly recommended especially with unusual neurological findings.

关键词： Meningitis Weakness Diplopia Photophobia EEG

Modified pretreatment method for total microbial DNA extraction from contaminated river sediment

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Frontiers of Environmental Science & Engineering 2015年第3期9卷 444-452页

作者： Yun FANG Meiying XU Xingjuan CHEN Guoping SUN Jun GUO Weimin WU Xueduan LIU Guangdong Institute of Microbiology Guangzhou 510070 China School of Minerals Processing and Bioengineering Central South University Changsha 410083 China Key Laboratory of Biometallurgy of Minislry of Education Changsha 410083 China State Key Laboratory of Applied Microbiology (Ministry-Guangdong Province Jointly breeding Base) Guangzhou 510070 China department of Civil & Environmental Engineering Center for Sustainable Development & Global Competitiveness Stanford University Stanford CA94305 USA

Extraction of high-quality microbial DNA from contaminated environmental samples is an essential step in microbial ecological study. Based on previously published methods for soil and sediment samples, a modified pretreatrnent method was developed for extracting microbial DNA from heavily contaminated river sediment samples via selection of optimal pretreatment parameters （i.e., reagent solution, reaction duration, and temperature）. The pretreatment procedure involves wash ing the river sediment sample for three times with a solution containing 0.1 mol.L-1 ethylene diamine tetra- acetic acid （EDTA）, 0.1 mol- L-1 Tris （pH 8.0）, 1.5 mol. L1 NaC1, 0.1 mol. L-1 NaH2PO4, and Na2HPO4 at 65~C with ***-1 for 15min to remove humic materials and heavy metals prior to the employment of standard DNA extraction procedures. We compared the results of standard procedure DNA extraction following pretreatrnent, without pretreatment, and with using a commercial PowerSoilTM DNA Isolation Kit. The results indicated that the pretreatment significantly improved the DNA quality based on DNA yield, DNA fragment length, and determination of prokaryotic diversity. Prokaryotic diversity exhibited in the DNA with the pretreatment was also considerably higher than that extracted with the Power- SoilTM DNA Isolation Kit only. The pretreatment method worked well even with a small amount of sediment sample （0.25 g or even lower）. The method provides a novel, simple, cost-effective tool for DNA extraction for microbial community analysis in environmental monitoring and remediation processes.

关键词： river sediment DNA extraction contaminant,pretreatment microbial community

Structure-guided analysis of Arabidopsis JASMONATE-INDUCED OXYGENASE(JOX)2 reveals key residues for recognition of jasmonic acid substrate by plant JOXs

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Molecular Plant 2021年第5期14卷 820-828页

作者： Xin Zhang Dongli Wang Joyce Elberse Linlu Qi Wei Shi You-Liang Peng Robert C.Schuurink Guido Van den Ackerveken Junfeng Liu State Key Laboratory of Agrobiotechnology Ministry of Agriculture Key Laboratory for Crop Pest Monitoring and Green ControlJoint International Research Laboratory of Crop Molecular BreedingCollege of Plant ProtectionChina Agricultural UniversityBeijing 100193China Plant-Microbe Interactions Department of BiologyUtrecht University3508 TB Utrechtthe Netherlands Green Life Sciences Research Cluster Swammerdam Institute for Life SciencesUniversity of Amsterdam1098 XH Amsterdamthe Netherlands

The jasmonic acid(JA)signaling pathway is used by plants to control wound *** persistent accumulation of JA inhibits plant growth,and the hydroxylation of JA to 12-hydroxy-JA by JASMONATE-INDUCED OXYGENASEs(JOXs,also named jasmonic acid oxidases)is therefore vital for plant growth,while structural details of JA recognition by JOXs are ***,we present the 2.65Åresolution X-ray crystal structure of Arabidopsis JOX2 in complex with its substrate JA and its co-substrates 2-oxoglutarate and Fe(Ⅱ).JOX2 contains a distorted double-stranded p helix(DSBH)core flanked by a helices and *** is bound in the narrow substrate pocket by hydrogen bonds with the arginine triad R225,R350,and R354 and by hydrophobic interactions mainly with the phenylalanine triad F157,F317,and *** most critical residues for JA binding are F157 and R225,both from the DSBH core,which interact with the cyclopentane ring of *** spatial distribution of critical residues for JA binding and the shape of the substrate-binding pocket together define the substrate selectivity of the *** alignment shows that these critical residues are conserved among JOXs from higher ***,our study provides insights into the mechanism by which higher plants hydroxylate the hormone JA.

关键词： crystal structure JASMONATE-INDUCED OXYGENASEs(JOXs) jasmonic acid(JA) 12-OH-JA hydroxylation