目的：对非综合征性先天性重度及以上感音神经性听力损失儿童及其父母进行耳聋相关基因检测，探讨耳聋基因芯片筛查在临床中应用的有效性和可行性。方法选择来自医院听力检测中心的47个听障儿童家庭，包括52例非综合征性先天性感音神经性听力损失患儿及其父母，应用遗传学耳聋基因芯片对47个家庭进行GJB2、GJB3、SLC26A4、线粒体12S rRNA4个常见耳聋基因9个检测位点的基因检测。结果146例受检者中，17个家庭的43例筛查结果阳性，其中16例听力损失患儿筛查阳性，筛查阳性率为30.8%。GJB2基因235delC位点纯合突变8例，GJB2基因235delC位点杂合突变20例，GJB2基因235delC位点和SLC26A4基因IVS7-2A〉G位点杂合突变1例，SLC26A4基因IVS7-2A〉G位点纯合突变2例，SLC26A4基因IVS7-2A〉G位点杂合突变10例，SLC26A4基因2168A〉G位点杂合突变2例。结论应用耳聋基因芯片检测技术能快速、高效地检测非综合征性耳聋患者的遗传性致病基因，适用于大规模群体耳聋基因的筛查，有助于临床医生从病因学角度辅助耳聋诊断，引入正确的康复干预措施，并为具有聋病易感基因的听力损失儿童家庭提供针对性的遗传咨询指导。

Objective To screen the deafness-related genes in children with severe and profound non-syndromic sensorineural hearing loss(NSHL) and their parents using DNA microarray and to investigate the reliability and feasibility of this technique. Methods 52 children with NSHL and their parents were screened with the DNA microarray which can detect 9 hot-spot mutations of four common deafness-related genes, including GJB2(35delG, 176del16, 235delC, 299_300delAT), GJB3(538C>T),SLC26A4(2168A>G, IVS7-2A>G) and mitochondrial 12S rRNA(1494C>T, 1555A>G). Results 43 of 146 subjects had positive results.16 of 52 NSHL children carried at least one deafness-related gene mutation and the positive rate was 30.8%. The GJB2 235delC homozygous mutations was found in 8 cases, GJB2 235delC heterozygous mutations in 20 cases,GJB2 235delC mutation/SLC26A4 IVS7-2A>G heterozygous mutation in 1 case, SLC26A4 IVS7-2A>G homozygous mutations in 2 cases, SLC26A4 IVS7-2A>G heterozygous mutations in 10 cases and SLC26A4

目的 分析致吉林省2009-2011年手足口病(hand,foot and mouth disease,HFMD)流行的柯萨奇病毒A组16型(Coxsackievirus group A type 16,CA16)分离株的基因亲缘关系.方法 对吉林省2009-2011年分离获得的54株CA16分离株的VP1编码区基因进行逆转录-聚合酶链反应扩增以及基因序列测定,使用MEGA 4.0软件进行基因亲缘关系分析.结果 吉林省2009-2011年54株CA16分离株有28株属于B1a基因亚型,26株属于B1b基因亚型;2009-2011年每年B1a基因亚型所占比例分别为86.7％、47.1％、31.8％,B1b基因亚型所占比例分别为13.3％、52.9％、68.2％.28株B1a基因亚型CA16形成了一个优势传播链和一个小传播链,26株B1b基因亚型CA16形成了一个优势传播链和两个小传播链.结论 B1a基因亚型所占比例呈现逐年下降趋势,B1b基因亚型所占比例呈现逐年增加趋势.吉林省2009-2011年呈现两个基因亚型各有一个优势传播链为主、各有1～2个小传播链为辅的共流行传播模式.

Objective To analyze the phylogenetic characteristics of Coxsackievirus group A type 16 (CA16) causing the epidemic of hand,foot and mouth disease(HFMD) in Jilin province from 2009 to 2011.Methods To choose 54 CA16 strains isolated from HFMD in Jilin province to do the reverse transcription-polymerase chain reaction (RT-PCR) and sequences of VP1 coding genes,and to analyze the sequence by the software of Mega4.0.Results 28 strains of 54 CA16 strains were B1a genotype and 26 strains of those were B1b genotype in Jilin province from 2009 to 2011 ; the proportion of B1a genotype was 86.7％,47.1％ and 31.8％ yearly,and the proportion of B1b genotype was 13.3％,52.9％,68.2％ yearly from 2009 to 2011.28 strains of B1a genotype formed one dominant and one small transmission chain,26 strains of B1b genotype formed one dominant and two small transmission chains.Conclusion The proportion of B1a genotype showed increased year by year,and the proportion of B1b genotype showed decreased y

以真菌毒素与分子植物病理学实验室前期分离、鉴定并保存的玉米大斑病菌菌株F1-40（A交配型菌株）、01-23（a交配型菌株）为试验材料,利用候选基因法,通过PCR扩增和Genome Walking技术,对A交配型菌株和a交配型菌株的MAT基因进行同源片段扩增,从而获得基因全长及其侧翼序列,进一步利用生物信息学方法对扩增得到的MAT基因全长进行保守结构域分析,利用玉米大斑病菌基因组数据库的Blast序列比对软件将MAT1基因和MAT2基因的侧翼序列进行比对。研究结果表明,在不同交配型的玉米大斑病菌中,A交配型的菌株中含有A交配型基因MAT1,a交配型菌株中含有a交配型基因MAT2。2个基因均含有1个内含子,其中MAT1基因编码包括1个完整的MAT-α结合域,该结合域属于MAT alpha1家族。MAT2基因编码包含1个完整的HMG-box结合域,该结合域属于DNA结合蛋白中HMG-box家族的Ⅰ类成员,由3个螺旋结构组成,位于133-202个氨基酸残基之间,整体呈U型,结构比较松散,通过高度序列特异性与DNA的小沟结合,参与DNA的复制、转录、翻译等一系列的过程,从而参与玉米大斑病菌的有性生殖过程。MAT1基因和MAT2基因侧翼序列的相似性高于93%。

In this study,we used the strains F 1-40(Mating type A) and 01-23(Mating type a) as materials.In order to obtain the full-length and the flanking sequence of MAT genes,the MAT1 gene of mating type A strain and the MAT2 gene of mating type a strain of Setosphaeria turcica were cloned by PCR and genome walking with the can-didate gene strategy .The conserved domain database of the full-length genes were analyzed .The flanking sequence of MAT1 and MAT2 genes were comprised by the Blast of genomic database of S.tucrica.The results suggested that both genes contain one introns .MAT1 encodes amino acids contain a complete MAT αd-omain,the domain as part of the MAT alpha1 family.MAT2 gene encodes amino acids ,including a complete MATA HMG-box combining with do-main,the domain as part of the DNA binding protein in the HMG -boxⅠclass members of the family ,such member containing a single HMG box ,composed of three helix ,which located between the 133-202 residues in the form of high

春小麦龙辐10号外源基因转化后代中发现了变异植株,并选育出弱冬习性的突变系T128。为了明确T128的突变机理,利用特异标记检测了龙辐10号和突变系T128的春化基因。结果表明：龙辐10号和T128的春化基因分别是Vrn-A1a、vrn-B1、vrn-D1、vrn-B3和vrn-A1、Vrn-B1、vrn-D1、vrn-B3。龙辐10号具有显性基因Vrn-A1a,而突变系T128的显性基因为Vrn-B1,致使突变系T128变为弱冬习性,生长发育时期延迟,表明外源基因转化过程可以导致基因变异。

Agronomic trait variation was found in the offsprings of genetic transformation in wheat Longfu 10 , and mutant line T128 with medium winterness was bred .In order to determine mutation mechanism ,vernaliza-tion genes of Longfu 10 and mutant line T128 were tested by designed mark .The result showed that vernaliza-tion genes type of Longfu10 were V rn-A1 a ,v rn-B1 ,v rn-D1 and v rn-B3 ,that of mutant line T128 were v rn-A 1 , V rn-B1 ,v rn-D1 and v rn-B3 .Longfu 10 had dominant gene V rn-A1a ,dominant gene of mutant line T128 was V rn-B1 .It induced medium winterness of mutant line T 128 ,delayed developmental stage .The research consid-ered that genetic transformation induces variation of non-target agronomic traits .

本研究利用PCR技术从马铃薯块茎基因组DNA中克隆块茎特异性启动子patatin,并从苏云金芽孢杆菌218中克隆aii A（高丝氨酸环内酯酶）基因,构建含aii A基因的抗软腐病植物表达载体p BI121-patatinaii A。并利用农杆菌介导法将aii A基因导入花魔芋,以研究aii A基因在魔芋块茎组织中的特异表达。结果表明,转化植株经GUS染色,仅在球茎部位出现蓝色斑点,经PCR检测,RT-PCR及Southern杂交检测证实aii A基因已整合到花魔芋基因组,初步表明aii A基因可在魔芋球茎内特异性表达。本研究对今后魔芋通过分子遗传工程改良软腐病抗性具有一定的应用价值。

In this study, a plant expression vector pBI121-patatin-aiiA was constructed by carrying a aiiA (acyl-homoserine lactonase) gene which was obtained from Bacillus thuringiensis and driven by a tuber-specific promoter of patatin gene cloned from Solanum tuberosum genomic DNA, and then transferred into Amorphophallus konjac mediated by Agrobacterium tumefaciens. PCR, RT-PCR and Southern blot analysis confirmed that aiiA gene was integrated into A . konjac genome. The results of GUS staining showed that the blue spots could be only observed on the corm of transformed A . konjac plants, which preliminarily indicated that aiiA gene could be specifically expressed in the corm of transformed A . konjac plants. This study provided a certain applicable value on resistance improvement of soft rot disease through molecular genetic engineering.