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Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.  相似文献   
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1IntroductionInaStableenjoinment,thegeneral~populationSystemcanbeexpr~asfollows(see[1,21)In[2,3],wedi~theP~ofationforaStatiomppopulationsyStem,theanduniquenessOfthesolutionforanonStatio~populationsystemwereP~.InthiSPaper,wediscusstheseriessolutionOf~tO~adulationSyStem,wedefinethecriticsproliferationrate,anddiscussthestabilityOftheSySt~.InSyStem(1),p(r,t)iscalledpopulationdenSi.tyfUnCtionOfagerandtimet,p,(r)isaninitialdistribution,8(t)istheprDliferationrate,p(r)isanincreasingfUnction(…  相似文献   
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AnewgenusandspeciesofXenocyprininae(Eoxenocyprisliui)isdescribedfromaplacergoldminenorthwestofHua'nanCounty,HeilongiiangProvince.ThedistributionoftheextantmembersofthesubfamilyislindtedtotheeasternlowlandsofChinaandHanoiBasin(SongHongValley),northernVetnam.InInteChnozoic,however,inadditiontotheirrecentareaofhabitattheywerealsowidelyspreadinJapan,mainlyinthelacustrinedepositsinthewesternsideoftheislandarchalnal,gaPoblique,lengthofheaongtheSeaofJapan.~~tagen'n0v'DiagnosisXen0cyprininofre…  相似文献   
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The region between the preexisting and nascentmembranes of a cleaving Rana egg is a dense protrusionregion of nearly 40μm wide at 180°stage.Later,thisregion differentiate,into an upper part,a strip withlong, branched and randomly distributed protrusionswhich are derived largely from the preexistingmembrane,and a lower part,a band with microvilli.During 4-and 8-cel1 stages,the strip is almost vanishedand microvilli in the band is shortened.The nascentmembrane is smooth at the 180°stage,then a rough areaappears below the smooth region and quickly expands.Wheat germ agglutinin which can bind to preexistingmembrane interrupts the development of the regionbetween the preexisting and nascent membranes.Detergent,Brij,having the property to increase the areaof nascent membrane,does not interrupt the developmentof the region between the preexisting and nascentmembranes.  相似文献   
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IIntroductionhnsldertheKolmogorovtypeequationswithforcedtermsforn-spedeswheremevectorfunctionIscontinuousandT-periodicInthet—variable(T>0)andP。(t)IS。COntlnuOuST-period1CfUnCtlol(l—1,2,…,n),。nddoeSn。tCh。ngeitsSignSlfl[0,Inthispaper,wesaythatthesystem(1.1)lspermanent,Ifthereexiststwoconstantssuchthatanysolutionexistsgloballyon[0,+OO)andthatthereexistsTO>0suchthatPe。anenceofconslde。dspeczeshasbeenw;delydlscu。edInllte。ture(see[1,2.3Jandtherefer…  相似文献   
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《生物学杂志》2011,28(5):79-82,85
系统生物学是系统理论和实验生物技术、计算机数学模型等方法整合的生物系统研究,系统遗传学研究基因组的稳态与进化、功能基因组和生物性状等复杂系统的结构、动态与发生演变等。合成生物学是系统生物学的工程应用,采用工程学方法、基因工程和计算机辅助设计等研究人工生物系统的生物技术。系统与合成生物学的结构理论,序列标志片段显示分析与微流控生物芯片,广泛用于研究细胞代谢、繁殖和应激的自组织进化、生物体形态发生等细胞分子生物系统原理等。  相似文献   
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Background

Artemisinin-based combination therapies (ACTs) are the mainstay for the management of uncomplicated malaria cases. However, up-to-date data able to assist sub-Saharan African countries formulating appropriate antimalarial drug policies are scarce.

Methods and Findings

Between 9 July 2007 and 19 June 2009, a randomized, non-inferiority (10% difference threshold in efficacy at day 28) clinical trial was carried out at 12 sites in seven sub-Saharan African countries. Each site compared three of four ACTs, namely amodiaquine-artesunate (ASAQ), dihydroartemisinin-piperaquine (DHAPQ), artemether-lumefantrine (AL), or chlorproguanil-dapsone-artesunate (CD+A). Overall, 4,116 children 6–59 mo old with uncomplicated Plasmodium falciparum malaria were treated (1,226 with AL, 1,002 with ASAQ, 413 with CD+A, and 1,475 with DHAPQ), actively followed up until day 28, and then passively followed up for the next 6 mo. At day 28, for the PCR-adjusted efficacy, non-inferiority was established for three pair-wise comparisons: DHAPQ (97.3%) versus AL (95.5%) (odds ratio [OR]: 0.59, 95% CI: 0.37–0.94); DHAPQ (97.6%) versus ASAQ (96.8%) (OR: 0.74, 95% CI: 0.41–1.34), and ASAQ (97.1%) versus AL (94.4%) (OR: 0.50, 95% CI: 0.28–0.92). For the PCR-unadjusted efficacy, AL was significantly less efficacious than DHAPQ (72.7% versus 89.5%) (OR: 0.27, 95% CI: 0.21–0.34) and ASAQ (66.2% versus 80.4%) (OR: 0.40, 95% CI: 0.30–0.53), while DHAPQ (92.2%) had higher efficacy than ASAQ (80.8%) but non-inferiority could not be excluded (OR: 0.35, 95% CI: 0.26–0.48). CD+A was significantly less efficacious than the other three treatments. Day 63 results were similar to those observed at day 28.

Conclusions

This large head-to-head comparison of most currently available ACTs in sub-Saharan Africa showed that AL, ASAQ, and DHAPQ had excellent efficacy, up to day 63 post-treatment. The risk of recurrent infections was significantly lower for DHAPQ, followed by ASAQ and then AL, supporting the recent recommendation of considering DHAPQ as a valid option for the treatment of uncomplicated P. falciparum malaria.

Trial Registration

ClinicalTrials.gov NCT00393679; Pan African Clinical Trials Registry PACTR2009010000911750 Please see later in the article for the Editors'' Summary  相似文献   
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