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检索条件"任意字段=中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会"

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A genetic variant altering ZNF804A expression is associated with increased risk of Autism Spectrum Disorder in Han Chinese Populations

A genetic variant altering ZNF804A expression is associated ...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Qin Yue Zhang Linna Gong Xiaohong Tao Wufan Wang Hongyan Obstetrics and Gynecology Hospital of Fudan University School of Life Sciences Fudan University Shanghai Jiao Tong University School of Medicine

Objective Autism spectrum disorder(ASD) is characterized with deficiencies in social interaction and repetitive behaviors(DSM-5). According to a report from the United States in 2012, the preva lence of ASD reached 1 in 68. ZNF804 A was found as a risk gene for ASD by CNV analyses. Fe w reports were addressed about the association between ZNF804 A and ASD except rs7603001. I n this study, we investigated the association of ZNF804 A(2 q32.1) mutations to the risk of ASD an d its possible pathological role in the disorder. Method Noncoding regions of ZNF804 A, including the promoter, 5‘ and 3‘ UTR, were sequenced in case-control 1056 samples from Chinese Han populations. Common variants(MAF>0.1) in ZN F804 A were filtered out for association study and haplotype analysis. In the subsequent analysis, RT-q PCR, EMSA, Ch IP and luciferase assays were performed to investigate the function of two Z NF804 A variants. Brain tissues used in our study from terminations of pregnancy in second-trime ster were provided by Tianjin Children‘s Hospital. Result Two SNPs(single nucleotide polymorphism) were filtered out during association study as they are significantly associated with high incidence of ASD. SNP1 has rs number in the db SNP d atabase, but there is no previous report for its function in any disease. SNP1 was a biallelic varian t T/C, and it was shown that T was a risk allele with ASD. Both SNP1 and another SNP(SNP2), which was less significant than SNP1 under five genetic models, together with two previous repor ted SNPs(rs7597593 and 1344706) in ZNF804 A were analyzed for haplotype. There are 16 poss ible haplotypes for those four SNPs. Three of the haplotypes had significant differences(T-A-C-A, P=0.0027;T-A-T-C, P=0.036 and C-G-T-C, P=0.017) in case-control samples. RT-q PCR of the b rain tissues indicated that SNP1(C>T) variant may reduce the expression level of ZNF804 A. ZNF804 A m RNA levels in individuals with TT genotype are significantly lower than that with CC

关键词： ASD A genetic variant altering ZNF804A expression is associated with increased risk of Autism Spectrum Disorder in Han Chinese Populations

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MiR-197 rescues the neurogenesis defects caused by autistic MECP2 mutation

MiR-197 rescues the neurogenesis defects caused by autistic ...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Hongyan Wang Yumeng Wang Yufang Zheng Yasong Du Institute of Reproduction & Development Obstetrics & Gynecology Hospital Fudan University The State Key Laboratory of Genetic Engineering at School of Life Sciences Fudan University Shanghai Mental Health Center Shanghai Jiaotong University

Objective MECP2(Methyl-Cp G-binding protein 2) is a key protein for neurodevelopment with fun ctions in not only transcription regulation but also micro RNA processing. Mutations in MECP2 are associated with neurodevelopment disorders, including MECP2 duplication syndrome(MDS), aut ism spectrum disorders(ASD) and Rett syndrome. Our study is to investigate the functional chan ges of MECP2 mutations from Chinese ASD patients during neural stem cells/progenitor cells(N SC/NPC) differentiation. Method Target sequencing of MECP2 gene in in a Chinese ASD cohort with 288 patients and 369 controls. Five rare missense mutations in MECP2 that were identified. The molecular function of those mutant MECP2 were investigated in both mouse NPC and human glioblastoma cells. In ut ero electroporation was used to study the in vivo function of MECP2 mutants in mouse developin g brain. Result 1. Five rare missense mutations in MECP2 that were identified in six Chinese ASD patient s only but not in control samples. 2. Overexpressing those mutated Me CP2 caused reduced neurogenesis both in vitro and in vivo. 3. Mi R-197 was identified as downstream key molecule of those MECP2 to regulate NOTCH sign aling pathway. Compared to WT MECP2, MECP2 mutants can not up-regulate mi R-197.3. Overexpression of mi R-197 could clearly rescue the differentiation defects caused by Me CP2 mutants both in vitro and in vivo. Conclusion Here we identified a brain-enriched mi R-197 that is critical for Me CP2 promoted neur al stem cells/progenitor cells(NSC/NPC) differentiation through inhibition on Notch signaling. Tho se five new autisitc mutations in MECP2 we identified resulted in a failure of mi R-197 up-regulatio n. Importantly, overexpression of mi R-197 could clearly rescue the defects caused by Me CP2 mu tants both in vitro and in vivo. Our results highlight a potential therapeutic effect of mi R-197 for n eurodevelopment disorders including MDS and ASD.

关键词： ASD MiR-197 rescues the neurogenesis defects caused by autistic MECP2 mutation

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In-silico screening and molecular analysis of disease associated mutations on Cul4B

In-silico screening and molecular analysis of disease associ...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Dou Hao Yu Qian Feng Yingjie Gong Yaoqin Institute of Genetics Shandong University

Objective Nowadays, the amounts of available gene sequencing data are growing rapidly. Comp utational methods were developed to interpret sequence variants and address their structural imp act on encoded proteins. CUL4 B gene located on X chromosome encodes Cul4 B protein. Cul4 B works as a scaffold to bind DDB1 and Rbx1, all of which form the CRL4 B E3 ligase and promote substrates ubiquitination in multiple signaling pathways. To date, the overexpression of CUL4 B g ene has been reported to be associated with many types of cancer. Variants in CUL4 B gene sequ ence were also found in numerous tumor tissues, including large intestine, stomach, breast, lung, liver and so on. Method Here, we used computational approaches to filter deleterious and pathogenic mutation in CUL4 B. Based on COSMIC and NCBI db SNP database, we analyzed hundreds of missense mut ations using Polyphen, SIFT, PANTHER and Mutation Taster server. 26% of variants are found to be damaging or deleterious. We mapped these mutations onto Cul4 B 3 D structural models includi ng native and neddylation states. Result We identified significant clustering of mutations in Cul4 B, which probably affects assembli ng CRL4 B E3 ligase complex. There are also some mutations, which might induce disruptions of proper protein folding. Interestingly, we found that C-terminus of Cul4 B(830-896 aa) is frequently mutated. This area is exposed in the native state but contacts E2 and co-E3 upon neddylation ac cording to 3 D models. For example, A835 E, R838 Q, I839 F, K841 N, and Y880 C might disrupt Cul4 B-E2 interaction. In addition, H848 Q, P862 T, D877 N might affect the neddylation of Cul4 B, thusgreatly reduce CRL4 B activity in facilitating substrate ubiquitination. Functional studies are requir ed to clarify whether these mutants have oncogenic characters. Conclusion Our study provided an efficient computational methodology to screen the cancer/dis ease associated mutations from large datasets and examine their m

关键词： CRL In-silico screening and molecular analysis of disease associated mutations on Cul4B

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Novel-compound heterozygous mutations in the TTI2 gene cause syndromic-intellectual disability in a Chinese family

Novel-compound heterozygous mutations in the TTI2 gene cause...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Han Shirui Wang Rongrong Liu Hongyan Zhang Xue The Research Center for Medical Genomics Key Laboratory of Medical Cell Biology Chinese Ministry of Ed ucation College of Basic Medical Science China Medical University Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College People's Hospital of Zhengzhou University Henan Provincial People's Hospital

Objective Background Tel2-interacting proteins 2（TTI2）interact with Tel2-interacting proteins 1（TTI1） and telomere maintenance 2（TELO2） to form the Triple T complex, which acts as a co-ch aperone of phosphoinositide-3-kinase-related protein kinase. Two missense mutations in TTI2 ha ve been reported to be associate with non-syndromic or syndromic intellectual disability. Objectives To identify the causitive mutation in a Chinese family with syndromic intellectual disab ility. Method Methods Here,we describe a Chinese family with a recessive inheritance pattern of intell ectual disability characterized by cognitive impairment, microcephaly, aggressive, behavioral trou bles and skeletal anomalies. We performed whole-exomes sequencing on two-affected patients. Candidate variants were validated by Sanger sequencing. Quantitative real-time PCR was emplo yed to evaluate the effect of the frameshift mutation on gene expression. Cellular localization of t wo TTI2 isoforms were examined using immunostaing. Result Results We identified compound heterozygous-mutations（c.94244 del TCTins CTGTGC TTCCATTCCTTCCTCCTAG[p.C314 Cfs*9]and c.1100 C>T [p.P367 L]） in TTI2. Maternal novel fra meshift mutation resulted in premature termination codon and nonsense-mediate m RNA decay. P aternal reported c.1100 C>T mutation changed the highly conserved proline to leucine that locate d in the DUF2454 domain, and maybe disrupt essential for stability and function of the Triple T complex. Additionally,we found a TTI2 short isoform, which is wildly expressed and located both in cytoplasm and nucleus. Conclusion Conclusion These results suggest that compound heterozygous mutations in TTI2 might cause syndromic intellectual disability in our family. Our case expands the genetic causes o f intellectual disability in Chinese population.

关键词： TTI Novel-compound heterozygous mutations in the TTI2 gene cause syndromic-intellectual disability in a Chinese family

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SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss

SLC44A4 mutation causes autosomal dominant hereditary postli...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Ma Zhaoxin Xia Wenjun Liu Fei Ma Jing Sun Shaoyang Zhang Jin Jiang Nan Wang Xu Hu Jiongjiong Ma Duan Department of Otorhinolaryngology Shanghai East Hospital Tongji University Institutes of Biomedical Science Fudan University Key Laboratory of Metabolism and Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology Institute of Biomedical Sciences Collaborative Innovation Center of Genetics and Development School of Basic Medical Sciences Fudan University Children's Hospital Fudan University

Objective Hearing impairment is considered one of the most prevalent clinic disability worldwide. The variety of hearing impairment causative genes determines the diversity of pathogenic macha nism. Method In our studies, clinical and genetic investigation of of a novel Chinese family with postling ual non-syndromic mid-frequency sensorineural hearing loss(MFSNHL) was performed. The affe cted individuals in this family showed the stable onset of hearing loss(age 27–30 years) across g enerations. During all stages of the disease, the audiograms present typical "bowl-shaped" audio metric profile, which displays distinction with the reported families segregating MFSNHL. Site mut ations were not observed in several frequent candidate genes known to be causative of hearing l oss(GJB2, GJB3, SLC26 A4, and mitochondrial genes), and genes reported to be causative of M FSNHL, such as DFNA10(EYA4), DFNA8/12(TECTA), DFNA13(COL11 A2), DFNA44(CCDC50) were also ruled out by gene sequencing. Result Using the second generation sequencing, we identified choline transport protein encoding gene, SLC44 A4, as the deafness pathogenic candidate gene in this family. On the zebra fish mod el, Q-RT PCR and in situ hybridization indicated that slc44 a4 was widely expressed in inner ear a nd central nervous system. Morpholine down regulation of slc44 a4 led to reduction and malformation of hair cells in cochlea. SLC44 A4 transfected SH-SY5 Y cells showed increased choline uptak e, while mutant ones didn‘t. Conclusion We conclude that mutation of SLC44 A4 may cause defect of Choline-Ach system, w hich is crucial to the efferent innervation of the hair cells from the olivocochlear(OC) bundle in th e maintenance of physiological function of outer hair cells and the protection to hair cells from aco ustic injury, leading to hearing loss.

关键词： SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss

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Association study of MYP10 and MYP15 for high myopia in a Han Chinese population

Association study of MYP10 and MYP15 for high myopia in a Ha...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Zhai Yaru Ye Zimeng Li Fang Jiang Lingxi Wu Haiyan Yang Zhenglin Shi Yi Sichuan Provincial Key Laboratory for Human Disease Gene Study Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital School of Medicine University of Electronic Science and Technology of China

Objective The previous genome-wide association study(GWAS) has revealed the association of MYP10 at 8 p23 and MYP15 at 10 q21.1 with high myopia in the French population. Our study was conducted to investigate the association between several single nucleotide polymorphisms(SNP s) at 8 p23 and 10 q21.1 regions and high myopia in a Han Chinese population. Method Eight SNPs in the MYP10(including rs189798, rs9949, rs19334,rs4840437, rs6989782, r s656319, rs6983332 and rs12678938) and four SNPs in the MYP15(including rs1394108, rs4589208, rs11005665 and rs10825992) were selected and genotyped by SNa Pshot method in a Han Chinese subject group composed of 869 high myopia patients and 804 controls. The genotyping data was analyzed by χ2 test and the linkage disequilibrium block structure was examined by Ha ploview software. Result Among the tweleve SNPs genotyped, only rs6983332 in the MYP10 showed significant a ssociation with high myopia in the study(P=1.6×10-6, corrected P= 0.015, OR= 0.119, 95%CI= 0.022-0.662). However, the G allele of rs4840437 and the T allele of rs6989782 in the TNKS gen e showed a protective effect for high myopia(P= 0.0037, corrected P= 0.091,OR= 0.871, 95%CI= 0.743-1.022;P= 0.0042, corrected P= 0.136, OR= 0.882, 95%CI= 0.749-1.040, respectively). Th e carriers of rs6983332 CT and rs6983332 CC+CT genotypes displayed a decreased risk of high myopia compared with rs6983332 TT carriers(P= 0.014, OR= 0.116, 95%CI= 0.021-0.647;P= 0.014, OR= 0.116, 95%CI= 0.021-0.647, respectively). Similarly, the carriers of rs6989782 CT and rs6989782 TT+CT genotypes also had a lower risk of high myopia(P= 0.023, OR= 0.752, 95%CI= 0.588-0.962;P= 0.033, OR= 0.776, 95%CI= 0.614-0.979, respectively). Importantly, halpotype analysis indicated that one LD block including two SNPs of rs4840437 and rs6989782 located in the T NKS gene and two haplotypes(AC, P=9×10-4;GT, P= 0.014, respectively) were significantly asso ciated with high myopia in this study. There were no statis

关键词： MYP Association study of MYP10 and MYP15 for high myopia in a Han Chinese population

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SLC33A1 ***113Arg(c.339T>G) mutation leads to neurod egeneration and accelerates injury-induced peripheral nerv e axonal regrowth in mice by modulating BMP signaling

SLC33A1 ***113Arg(c.339T>G) mutation leads to neurod egenera...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Liu Pingting Jiang Baichun Ma Jian Lin Pengfei Shao Changshun Sun Wenjie Gong Yaoqin The Key Laboratory of Experimental Teratology Ministry of Education and Department of Genetics Shando ng University School of Medicine Laboratory of Neuromuscular Disorders and Department of Neurology Qilu Hospital Shandong University

Objective The mutation ***113 Arg(S113 R)(c.339 T>G)(MIM #603690.0001) in SLC33 A1(MI M #603690), an ER membrane acetyl-Co A transporter,has been previously identified in patients with hereditary spastic paraplegiatype 42(SPG42;MIM #612539). SLC33 A1 has also been recog nized as a novelinhibitory factor of bone morphogenetic protein(BMP) signaling pathway in zebra fish. Method To better understand the function of SLC33 A1, we generated and characterized Slc33 a1 S113 R knock-in mice. Next,we addressed whether modulation of BMP signaling by SLC33 A1 co uld influence peripheral nerve regeneration by using a mouse sciatic nerve crush injury model. Result Homozygous Slc33 a1 mutant mice were embryonic lethal, suggesting that SLC33 A1 is es sential for early embryonic development. While heterozygous Slc33 a1 mutant mice(Slc33 a1 wt/m ut) exhibited behavioral abnormalities and central neurodegeneration, no obvious abnormalities w ere found in the peripheral nerve. Results obtained with sciatic nerve crush injury model and dors al root ganglion(DRG) explants showed that Slc33 a1 wt/mut mice exhibited accelerated axonal re generation after sciatic nerve crush injury. Furthermore, we found an upregulation of BMP signali ng in the nervous system of Slc33 a1 wt/mut mice. Noggin, an endogenous BMP signaling antagon ist, could fully reverse the accelerated sciatic nerve regeneration after crush injury in Slc33 a1 wt/m ut mice. Conclusion These results indicated that SLC33 A1 can negatively regulate BMP signaling during axonal regeneration in mice, which may serve as a potential therapeutic agent for the treatment of SLC33 A1-related hereditary spastic paraplegia.

关键词： SLC33A1 p.Ser113Arg c.339T>G mutation leads to neurod egeneration and accelerates injury-induced peripheral nerv e axonal regrowth in mice by modulating BMP signaling

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先天性心脏病分子遗传学研究及筛查、诊疗方案的优化

先天性心脏病分子遗传学研究及筛查、诊疗方案的优化

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作者：唐宁黄际卫曾定元梁彪严提珍王麟廖凤文王远流李伍高罗世强李哲涛蒋健穗李静文莫敏聪韦庆成何建彪柳州市妇幼保健院

项目来源：项目来源为桂科计字[2015]98号文件下达的广西科学研究与技术开发计划项目《先天性心脏病的分子遗传学研究及筛查、诊疗方案的优化》（合同编号：桂科攻1598011-8）。课题来源与背景：先心病是最常见的出生缺陷和新生儿死亡... 详细信息

项目来源：项目来源为桂科计字[2015]98号文件下达的广西科学研究与技术开发计划项目《先天性心脏病的分子遗传学研究及筛查、诊疗方案的优化》（合同编号：桂科攻1598011-8）。课题来源与背景：先心病是最常见的出生缺陷和新生儿死亡原因,严重威胁人类的身心健康。提高先天性心脏病的优生咨询、诊断以及救治水平是出生缺陷防控的重大战略需求。本项目以先进的产前/产后分子诊断技术联合影像技术为基础进行精准临床干预,为临床上预测先心病的预后、开展针对性诊治和遗传咨询提供可靠的科学依据。技术原理及性能指标：基于遗传因素的先心病产前-产后一体化监测与精准防治模式,产前以预防为主,产后以治疗为主,并结合遗传因素进行遗传咨询及再发防范。技术的创造性与先进性：本课题与国内国外同类研究相比较,其创新点在于：1.建立了快捷核型分析技术及基因拷贝数变异技术用于遗传学检测;2.针对先心病建立基于遗传因素的先心病产前-产后一体化监测与精准防治模式;3.经广西壮族自治区医学科学信息研究所查新报告提示：在国内有关先天性心脏病产前诊断筛查和防治的研究结果中,未检索到与委托项目上述先心病监测与防治模式（包括核型分析技术等）完全相同的研究报道。技术的成熟程度,适用范围和安全性,应用情况：超声影像检查、核型分析、基因拷贝数变异、叶酸利用相关基因检测技术成熟稳定,适用用于在各种先天性缺陷的产前及产后检测,具有广泛的推广应用前景。目前超声影像检查、核型分析已在包括先心病在内的各种先天性缺陷的遗传学诊断中广泛应用,叶酸利用相关基因检测在优生优育及不孕不育的的遗传学诊断中应用,基因拷贝数变异在优生优育及不孕不育的的遗传学诊断中应用,结果表明可显著提高阳性检出率,提高诊断水平。这些方法作为出生缺陷防控的重要技术值得向基层推广。存在的问题： 1、本项目在研究过程中,通过高通量全外显子测序技术（WES）对先心病患儿进行全外显子测序检测分析,发现部分病因未明的先心病患儿携带一些心脏发育相关基因的有害性变异,这些变异在携带突变先心病患者中对疾病发生的作用有待进一步深入研究,另外最新的研究表明先心病的发病机制不仅限于单个基因突变或者双等位基因突变,还可以通过同时三个基因突变导致疾病,这些基因变异涉及更深入的功能研究不在本研究范围内,由于技术平台和时间经费等原因本项目未能开展功能研究,在后续的研究中希望可以通过与经验丰富的机构进行合作进行深入的功能研究。 2、先心病具有遗传异质性和表型多样性,先心病的发生与遗传及环境的关系密不可分,由于遗传异质性及环境因素的复杂多变,如何开展环境因素对先心病发生的研究以及遗传异质性在不同环境下的相互作用？后续研究可进一步细化先心病的分子基础,加强不同环境因素下先心病相同遗传因素的作用机制及表型差异,以及相同环境因素下不同遗传因素的作用机制及表型差异研究。获奖情况：努南样综合征伴毛发松动患儿临床特点分析及SHOC2基因突变研究.中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会.中国浙江杭州. 2016-11-05。

关键词：先天性心脏病分子遗传学临床诊断

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Fast detection of Thanatophoric dysplasia type Ⅰ R248C mutation hot spots and rapid prenatal diagnosis of three TD type Ⅰ high-risk fetuses

Fast detection of Thanatophoric dysplasia type Ⅰ R248C muta...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： JIANG Yu PAN Jingxin GUO Dongwei AI Yang LI Rong JIANG Weiying FANG Qun GUO Yibin Zhongshan School of Medicine SUN Yat-sen University The Second Affiliated Hospital Fujian University of Medical Science Medical College Xiamen University The First Affiliated Hospital Sun Yat-sen University

Objective To build up the specifically rapid methods of RE and ARMS/RE for mutation hotspot "p.R248 C" in the FGFR3 gene of Thanatophoric dysplasia typeⅠ, then use the method to rapid pren atal diagnosis of three follow-up high-risk fetuses of TD-I to stop the birth of suffering fetuses, at t he same time, lay a good foundation of preimplantation genetic diagnosis(PGD) for the future. Method Firstly, according to the characteristics of the sequence of the mutation hot spot p.R248 C before and after mutation, select the appropriate enzyme "Afe I" to establish the identification me thod of enzyme digestion. After that, devising the specific primers of double mismatch bases combining the method of digestion of Apa LI(ARMS/RE) to achieve the double identification. In th e end,the sequences obtained by common primers were used to verify the negative and positive results through DNA sequencing. Result(1) For the normal control and the patient without R248 C mutation of TD-I,PCR products(535 bp) of exons(6-7) of FGFR3 gene, amplified by common primers, could be digested into tw o fragments(255 bp and 280 bp) by Afe I. However, for the fetuses 1～3, it could be all digested in to three fragments(255 bp, 280 bp and 535 bp).(2) The normal control and the patient without R248 C mutation of TD-I were negative using the specific primers E7(R248 C), which could not be furth er identified by enzyme digestion. For the fetuses with R248 C mutation of TD-I, PCR products(365 bp) of exon 7 of FGFR3 gene, amplified by specific primers, could be digested by Apa LI and all the digested products were 22 bp and 343 bp.(3)Sequencing results of common primers‘ product s indicated: fetuses 1～3 were p.R248 C heterozygous mutation. Conclusion(1) The method is fast, accurate and reliable, which can be available for the fast dete ction of mutation hotspot p.R248 C and the rapid prenatal diagnosis of high-risk fetus with p.R248 C mutation.(2) This method can also be applied to PGD of high-risk fetus

关键词： Fast detection of Thanatophoric dysplasia type R248C mutation hot spots and rapid prenatal diagnosis of three TD type high-risk fetuses

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The prenatal diagnosis of high risk fetus with severe short limb malformation and a preliminary study on the high incidence mutation and homozygous mutation mechanism of R248C of TD-I type

The prenatal diagnosis of high risk fetus with severe short ...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： GUO Yibin PAN Jingxin GUO Dongwei XIE Jie FANG Zishui AI Yang LI Rong JIANG Yu JIANG Weiying FANG Qun GUO Chunmiao Zhongshan School of Medicine Sun Yat-sen University The Second Affiliated Hospital Fujian University of Medical Science Medical College Xiamen University

Objective To reveal the real cause of onset and lay the foundation of preimplantation genetic diagnosis for the future, prenatal diagnosis were performed for high-risk fetuses who were diagnosed tentatively as severe micromelia TD-I type(or OI-II type, ACG-I, II type, SRPS-III type etc) by the antenatal ultrasonography. At the same time, analysing and discussing the high mutation incidence and the homozygous mutation mechanism of p.R248 C of TD-I type to reveal the underlying mechanism. Method DNA of the fetal specimens were prepared by the microscale fast extraction method. The sick fetuses were diagnosed rapidly by the ARMS/RE method established for the high incidence of p.R248 C of FGFR3 gene. For those that the p.R248 C test is negative, sequence analysis was performed on other sites by sequencing. For those that FGFR3 gene mutation is negative, the COL1 A1, COL1 A2, COL2 A1, DYNC2 H1, NEK1 and other related gene were detected using one or two generation sequencing technology, and a series of methods were used to identify the pathogenicity of novel mutations. Result A total of 15 patients with severe short limb deformities were examined.(1) 10 cases carried the mutation of FGFR3 gene, thereinto, 6 cases with p.R248 C mutation, 1 case with p.S249 C mutation, 2 cases with p.Y373 C mutation, 1 case with a novel heterozygous mutation. For p.R248 C mutation, 3 homozygous mutation cases and 3 heterozygous ones were found. Using the ARMS/RE method, all normal control was negative, however, 365 bp specific fragments were amplfied for patients with p.R248 C mutation. And the fragment can be cut into two fragments(22 bp and 343 bp) by specific enzyme digestion.(2) 3 cases carried the mutation of COL1 A1 gene, case 1 and case 2 are twins who carried the p.G452 R mutation and case 3 carried the p.G1022 V mutation.(3) 1 case who carried the mutation of PPIB gene is compound heterozygous.(4) 1 case who carried the mutation of DYNC2 H1 gene is compound heterozygous. Conclusion

关键词： The prenatal diagnosis of high risk fetus with severe short limb malformation and a preliminary study on the high incidence mutation and homozygous mutation mechanism of R248C of TD-I type

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