简介：前列腺癌症(PCa)是在有超过890 的世界上的最普通的恶意之一；000个盒子和超过258 ；各世界范围的000死亡年。将近从PCa的死亡由于变形疾病的所有，典型地通过演变到的肿瘤荷尔蒙倔强或阉割抵抗。尽管有集中的流行病学的学习，有很少已知的环境风险因素，并且年龄和家庭历史是主要决定因素。然而，在世界范围的PCa发生有极端异质，建议主要决定因素没被描述。染色体宽的协会研究被执行了，重要，却低风险的loci的一个可观的数字被识别了。另外，几个组由genomic拷贝数字的决心分析了PCa，熔化基因产生并且候选人基因，以及定序的exome和整个染色体重新定序指向。这些起始的研究检验了主要、变形的肿瘤以及鼠科的异种皮移植并且在雄激素反应和房间周期小径的TP53和其它潜力司机基因，和骚乱识别了体的改变。继续风险因素以及基因变化的描述，这被希望，在肿瘤的错误规定将帮助理解，诊断并且更好对待PCa。

简介：AbstractCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.

简介：TreeGeneticsandMolecularBreeding(ISSN1927-5781)isaninternational,openaccess,peerreviewedjournal,committedtoservefortreegeneticsandmolecularbreeding,particularlypublishinginnovativeresearchfindingsinthebasicandappliedfieldsoftreemoleculargeneticsandnoveltechniquesforcrop/fruit/forest/ornamental/

简介：AbstractReverse genetics via targeted modification of gene sequences to obtain a phenotype and the inference of a gene's function or regulatory mechanism is widely used as a potent tool in viral biology and application. However, while reverse genetics has contributed significantly to our understanding of molecular biology and the pathogenesis of viruses, its accessibility (operation) and openness (data) have raised many concerns regarding biosafety and biosecurity. In this review, we retrospectively examine the development of reverse genetics and its applications in virology, then emphasize global biosafety and biosecurity concerns regarding reverse genetics, and summarize global regulations, governance, and laws on reverse genetics. This review seeks to enhance our understanding and rational application of reverse genetics technology for the benefit of humankind.

简介：AbstractFetal growth restriction (FGR) is associated with multiple adverse perinatal outcomes, such as increased risk of intrauterine death, neonatal morbidity and mortality, and long-term adverse outcomes. Genetic etiological factors are critical in fetuses with intrauterine growth restriction, including chromosomal abnormalities, copy number variants, single gene disorders, uniparental disomy, epigenetic changes, and confined placental mosaicism. This paper aims to provide an overview of genetic defects related to FGR and to highlight the importance of prenatal genetic counseling and testing for precise diagnosis and management of FGR.

简介：Inheritedcardiomyopathiesaremajorcausesofmorbidityandmortalityandincludeagroupofcardiacdisorderssuchashypertrophiccardiomyopathy(HCM),dilatedcardiomyopathy,arrhythmogenicrightventriculardysplasia/cardiomyopathy(ARVD/C),leftventricularnoncompaction(LVNC),andrestrictivecardiomyopathy(RCM).Thesediseaseshaveasubstantialgeneticcomponentandpredisposetosuddencardiacdeath.Sincethefirstgenewasidentifiedasadisease-causinggeneforHCMovertwodecadesago,morethaneightygeneshavebeenidentifiedtobeassociatedwithinheritedcardiomyopathiesandgenetictestinghasbecomeprevalentinmakingclinicaldiagnosis.Withtheadventofnext-generationsequencingtechnology,geneticpaneltestingofinheritedcardiomyopathieshasbecomefeasibleandcostefficient.Inthisreview,wesummarizetheindividualcardiomyopathieswiththeemphasisoncardiomyopathygeneticsandgenetictesting.

简介：MITEs(Miniatureinverted-repeattransposableelements)arereminiscenceofnon-autonomousDNA(classⅡ)elements,whicharedistinguishedfromothertranspos-ableelementsbytheirsmallsize,shortterminalinvertedrepeats(TIRs),highcopynumbers,genicpreference,andDNAsequenceidentityamongfamilymembers.Al-thoughMITEswerefirstdiscoveredinplantsandstillactivelyreshapinggenomes,theyhavebeenisolatedfromawiderangeofeukaryoticorganisms.MITEscanbedividedintoTourist-like,Stowaway-like,andpogo-likegroups,accordingtosimilaritiesoftheirTIRsandTSDs(targetsiteduplications).Indespiteofsev-eralmodelstoexplaintheoriginandamplificationofMITEs,theirmechanismsoftranspositionandaccumulationineukaryoticgenomesremainpoorlyunderstoodowingtoinsufficientexperimentaldata.TheuniquepropertiesofMITEshavebeenexploitedasusefulgenetictoolsforplantgenomeanalysis.UtilizationofMITEsaseffectiveandinformativegenomicmarkersandpotentialapplicationofMITEsinplantssystematic,phylogenetic,andgeneticstudiesarediscussed.

简介：AbstractThe International Society of Reproductive Genetics (ISRG) assembled a workgroup made up of clinicians, clinical laboratory directors, and scientists for the purpose of creating the guidelines for preimplantation genetic testing (PGT). The most up-to-date information and clinical insights for the optimal PGT practice were incorporated in these guidelines. Recommendations are provided for embryologists, medical geneticists, clinical laboratorians, and other healthcare providers to improve the wellbeing of patients seeking assisted reproductive treatment and their offspring.

简介：自从1980年代，为抵抗繁殖到细菌的老家的米饭很快在中国一直在进行。基因Xa4主要在三线的indica混血儿和较普通活字大一倍的混合米饭被使用。疾病是‘quiet'在中国的20年了，然而，在最近的年里，它逐渐地出现了并且在在Changjiang河山谷与最新释放的米饭变化种的地里是流行的。在这种情况下，科学家们不可避免地提出了几个问题：什么并且什么引起苏醒我们应该下次做？或抵抗仍然在米饭正在引起主要目的之一改进？我们在抵抗上采取哪个途径繁殖以便抵抗将是更持久的，并且抵抗基因将更高效地被使用？包含传统的方法，分子的帮助标记的选择，和转基因的技术的联合策略应该把一个新时代带到引起节目的细菌的老家抵抗混血儿米饭。这评论简短也在与拓宽抵抗基因的细菌的老家抵抗，和合适的利用有关的问题上讨论并且商讨，可得到的抵抗基因的交替的种；并且甚至在亚洲在中国理解细菌的病原体的剧毒的人口。

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简介：最近，来自曼彻斯特大学的研究者们鉴定出了食管癌发生的关键因子。AndySharrocks教授以及其临床合作者YengAng博士等人利用一种新型的手段，寻找人类基因组中与该类癌细胞产生有关的分子标记。

简介：BackgroundAtrialfibrillation(AF)wasusedtobeconsideredasnongeneticsdisorder,butrecentstudieshaverevealedthatgeneticsvariantsconferredsusceptibilitytoAFdevelopment,butmostwithlimitedevidence.Inordertosystematicallyevaluatetheoverallcontributionsofgene-diseaseassociationstudiestocurrentunderstandingsofthegeneticsusceptibilitytoatrialfibrillation,weperformasystematicreviewandmeta-analysisbasedoncomprehensivesearches.MethodAllstudiesontheassociationsofgeneticsvariantswithAFriskwereidentifiedbysearchingthefollowingdatabases:Medline,Embase,BIOSIS,GlobalHealth,LILACSandCBMDisc.Oddsratios(CI)and95%confidenceintervals(CI)werecalculatedunderhomozygotecomparison(HC),dominantmodel(DM)andrecessivemodel(RM),respectively.ResultsAtotalof41studieson32genesand72polymorphismslocationswereidentified.ThesummaryORwasstatisticallysignificantassociationsin23(31.94%)singlenucleotidepolymorphisms(SNPs).Thegenesinrenin-angiotensin-aldosteronesystem(RAAS)andionchannelswerethemostlystudied.FourSNPs(50.00%)inRAASgenesweresignificantlyassociatedwithAFsusceptibility:ACEI/D(HC:OR=1.53,95%CI:1.14-2.0DM:OR=1.47,95%CI:0.86-1.53;RM:OR=0.49,95%CI:0.41-0.59);AGTA-20C(HC:OR=1.56,95%CI:1.41-2.12);AGTM235T(HC:OR=2.37,95%CI:1.21-4.65).StatisticallysignificantassociationswerealsofoundinthefollowinggenesandSNPs:ABCA1G1051A,BCHEG1615A,CETPA1061G,I405V,TaqIB,CRPC1444T,EDN2A985G,eNOST-786C,IL-10T-819C,A-592C,MinKG38S,KCNH2rs1805120,Kir3.4C171T,G810T,MMP2C-1306T,FactorⅡG20210A,SCN5AH58R,SLC26A8I639V,G-proteinβ-subunitC825T,chromatosome4q25rs2200733andrs10033464.ConclusionsNearlyone-thirdofSNPswerestatisticallysignificantassociatedwithAFrisk,withvariantsinRAASgenesmosthighlysignificantassociation.Morestudiesonawiderangeofgenesaremerited.

简介：植物高度的发展遗传基于NCII设计以二个环境条件从二组三线的indica混血儿米饭被分析，用添加剂主导的发展遗传模型和统计方法。结果证明米饭遗传型和环境条件能两个都影响植物高度，并且植物高度上的环境的效果与植物开发逐渐地减少了。添加剂和主导的效果两个都管理了植物高度的表演根本发展的阶段。然而，效果的度在米饭遗传型之中变化了。而且，在环境和遗传型之间的相互作用也影响了植物高度。基因效果不同至多发展的阶段。而且，添加剂效果的表示比主导的效果的更活跃。有环境的有条件的相互作用效果也在基因开发期间影响了植物高度，特别在早阶段。中间父母的杂种优势(HMP)与植物高度的发展阶段逐渐地增加了，并且而在更好的父母(HBP)上的杂种优势在遗传型之中显示出小差别，并且在以后的阶段保持稳定，在最近的阶段最大化，与积极数字价值。至多发展的阶段，有条件的HMP是确实重要的，当有条件的HBP是否定地重要的时。所有上面的结果建议HMP和HBP在所有发展时期和层次和方向有一些新表情是相当不同的。

简介：Investigatinghowcropdomesticationandearlyfarmingmediatedcropattributes,distributions,andinteractionswithantagonistsmayshedlightontoday'sagriculturalpestproblems.Cropdomesticationgenerallyinvolvedartificialselectionfortraitsdesirabletoearlyfarmers,forexample,increasedproductivityoryield,andenhancedqualities,thoughinvariablyitalteredtheinteractionsbetweencropsandinsects,andexpandedthegeographicalrangesofcrops.Thus,somestudiessuggestthatwithcropdomesticationandspread,insectpopulationsonwildcropancestorsgaverisetopestiferousinsectpopulationsoncrops.Here,weaddressedwhethertheemergenceofcornleafhopper(Dalbulusmaidis)asanagriculturalpestmaybeassociatedwithdomesticationandearlyspreadofmaize(Zeamaysmays).WeusedAFLPmarkersandmitochondrialCOIsequencestoassesspopulationgeneticstructuringandhaplotyperelationshipsamongcornleafhoppersamplesfrommaizeanditswildrelativeZeadiploperennisfrommultiplelocationsinMexicoandArgentina.Weuncoveredsevencornleafhopperhaplotypescontainedwithintwohaplogroups,onehaplogroupcontaininghaplotypesassociatedwithmaizeandtheothercontaininghaplotypesassociatedwithZ.diploperennisinamountainoushabitat.Withinthefirsthaplogroup,onehaplotypewaspredominantacrossMexicanlocations,andanotheracrossArgentineanlocations;bothwereconsideredpestiferous.Wesuggestedthatthedivergencetimesofthemaize-associatedhaplogroupandofthe"pestiferous"haplotypesarecorrelatedwiththechronologyofmaizespreadfollowingitsdomestication.Overall,ourresultssupportahypothesispositingthatmaizedomesticationfavoredcornleafhoppergenotypespreadaptedforexploitingmaizesothattheybecamepestiferous,andthatwiththegeographicalexpansionofmaizefarming,cornleafhoppercolonizedZ.diploperennis,ahostexclusivetosecludedhabitatsthatservesasarefugeforarchaiccornleafhoppergenotypicdiversity.B

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