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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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Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations – R380S and W305L

Genotype-based clinical manifestation and treatment of Chine...

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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： Zhou Hui Lai Wei Zhu Wengen Xie Jinyan Liu Xin Shen Yang Yuan Ping Liu Ying Cao Qing He Wenfeng Hong Kui Department of Cardiovascular The Second Affiliated Hospital of Nanchang University The Key Laboratory of Molecular Medicine The Second Affiliated Hospital of Nanchang University

Objective Most long QT syndrome patients are associated with genetic mutations. We aimed to i nvestigate the clinical and biochemical characteristics and look for genotype-based preventive im plications in Chinese long QT syndrome patients. Method All the patients underwent clinical evaluation, including medical and family history, physic al examination, 12-lead electrocardiogram, and echocardiography examinations. Genomic DNA w as extracted from the peripheral blood lymphocytes. The candidate genes – KCNQ1, KCNH2, an d SCN5 A were directly sequenced, the wild type or mutant KCNQ1 constructs were transfected in to COS-7 cells. Membrane currents were measured by whole-cell voltage-clamp recordings, stea dy-state inactivation was estimated using a pre-pulse protocol. The mean values and SEM were c ompared by the t-test, and values of p <0.05 were considered to be statistically significant. Result We identified two missense mutations of the KCNQ1 gene in two independent Chinese fa milies, including a previously reported mutation R380 S in the C-terminus and a novel mutation W305 L in the P-loop domain of the Kv7.1 channel, respectively. The proband with R380 S was an 11-year-old girl who suffered a prolonged corrected QT interval of 660 ms, recurrent syncope, and sudden cardiac death, whose father was an asymptomatic carrier. The mutation W305 L was dete cted in a 36-year-old woman with long QT syndrome and her immediate family members includin g the proband‘s younger sister with an unexplained syncope, her son, and her elder daughter with out symptoms. Metoprolol appeared to be effective in preventing arrhythmias and syncope in long QT syndrome patients with mutation W305 L. Both R380 S and W305 L mutations led to "loss-of-fu nction" of the Kv7.1 channel accounting for the clinical phenotypes. Conclusion We first show two missense KCNQ1 mutations – R380 S and W305 L in Chinese long QT syndrome patients, resulting in the loss of protein function. Mutation W305 L in the

关键词： Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations R380S and W305L

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CFTR Mutations in Chinese Patients with Cystic Fibrosis

CFTR Mutations in Chinese Patients with Cystic Fibrosis

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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 Yaping Liu Keqiang Tian Xinlun Yang Jun Li Xue Zhu Yuanjue Xu Kai-feng Zhang Xue State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Department of Respiratory Medicine Peking Union Medical College Hospital

Objective Cystic fibrosis（CF）, the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator（CFTR） gene. The most common CFTR mutations have been well established among Caucasian CF patients. In Chinese, we and others have previously identified CFTR mutations in 31 Chinese patients with CF. In this study, we aim to report some new CFTR mutations and also to summariz e the mutation spectrum of CFTR in Chinese patients with CF. Method In this study, ten Chinese patients with a clinical diagnosis of suspected CF were newly c ollected and screened for CFTR mutations using a combination of conventional Sanger sequenci ng and multiplex ligation-dependent probe amplification（MLPA） analysis. Previously reported CF TR mutations in Chinese CF patients were also summarized. Result We identified 13 different mutations in ten newly collected Chinese CF patients including f our novel mutations: c.3140-454.3367+259 delins, p.R10481123 del（△E20）;c.607 A>T, p.I203 F;c.325 T>G, p.Y109 D and c.3723 C>A, p.G1241 G. Once again, p.G970 D, the previously report ed most frequent mutation, was found in 4/10 patients;two of the patients are also homozygotes f or this mutation. Therefore, the most common CFTR mutation identified so far in totally 41 Chines e CF patients was still p.G970 D with a frequency of 18.3%（15/82）. The second frequent mutation in Chinese CF patients was c.1766+5 G>T, p.D529 Sfs*7（△E12） with a frequency of 8.5%（7/82）. However, p.F508 del, the most common mutation in Caucasian CF patients, was only seen once i n Chinese CF patients. Furthermore, we noticed that all the mutations identified in Chinese CF pa tients are rare in Caucasian CF patients. Conclusion Firstly, CF in China might not be as rare as we thought before. Secondly, p.F508 del, the most common mutation in Caucasian patients with CF, was seen in Chinese CF patients, although it is pretty rare. Thirdly, the most

关键词： CFTR Mutations in Chinese Patients with Cystic Fibrosis

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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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Gross deletion of different domains of Fibrillin-1 result in variable phenotype of Marfan syndrome

Gross deletion of different domains of Fibrillin-1 result in...

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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： Li Jiacheng Lu Chaoxia Yang Kunqi Lei Xinxing Zhang Ying Zhang Sue McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Department of Cardiology State Key Laboratory of Cardiovascular Disease Fuwai Hospital National Center for Cardiovascular Disease Chinese Academy of Medical Sciences and Peking Union Medical College

Objective Marfan syndrome is mostly caused by mutations in FBN1, a large gene spanning 00 kb of genomic DNA on chromosome 15 q21. So far, more than 1800 different FBN1 mutations have been identified, accounting for 60–90% of all Marfan syndrome cases, the vast majority being single nucleotide exchanges as well as small del etions and insertions. Only 3% large rearrangements have been described in the ***: To investigate the large genomic rearrangements of FBN1 in MFS patients, and discuss the g enotype-phenotype correlations. Method In total, systematic sequencing of the FBN1 gene was previously performed in 21 unrelat ed individuals with MFS or related phenotypes, no small mutations were found. After that, multiplex ligation-dependent probe amplification（MLPA） w ere used for detection copy number variations in these patients. To elucidate the molecular mech anism underlying large rearrangement in the FBN1 gene, real-time quantification PCR and gap P CR were applied to determine the breakpoints within FBN1. Result We identified four FBN1 gross deletions（exon6, exons48-53,exons49-50 and exons1-36 deletion） in 21 patients with MFS. Three deletions（exon6,exons48-53 and exons49-50 deletions） were predicted to be in-frame deletion, and the last one（exons1-36 deletion） may result in deletio n one copy of the FBN1 gene. Through real-time quantification PCR and gap PCR, the breakpoint s of 4 deletions were cloned. Subsequent sequencing of the junctional, fragments revealed the de letion sizes of 16,551 bp, 10,346 bp, 4,563 bp and 187,067 bp respectively. Through analysis of the level of transcription in patients‘ RNA sample available, exons 48-53 and exons 49-50 deletions w ere confirmed to be in-frame deletion, which resulted in one or several cb EGF and/or TB domain of fibrillin-1 removed. Clinical features between three patients with in-frame deletions and the pati ent with hemizygous deletion FBN1 deletion were different. Conclusion Our findings highlig

关键词： MFS Gross deletion of different domains of Fibrillin-1 result in variable phenotype of Marfan syndrome

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CUL4B promote proliferation and migration of non-small-ce ll lung cells through epigenetically repression of miR-194

CUL4B promote proliferation and migration of non-small-ce ll...

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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： Mi Jun Zou Yongxin Lu Juanjuan Lin Xiaohua liu Xiaochen Zhao Hui Ye Xiang Hu Huili Jiang Baichun Han Bo Shao Changshun Gong Yaoqin The Key Laboratory of Experimental Teratology Ministry of Education and Department of Molecular Medicine and Genetics Shandong University School of Medicine Department of Pathology Shandong University School of Medicine

Objective CUL4 B, a scaffold protein that assembles CRL4 B ubiquitin ligase complexes, is overex pressed in many types of cancers and represses many tumor suppressors through epigenetic me chanisms. However, the roles of CUL4 B in lung cancer, particularly the non-small cell lung cancer s(NSCLC) are unknown. Method Cell proliferation was measured by MTT, Ed U incorporation and colony formation assa y. Wound-healing and transwell migration assays were employed to measure cell migration and i nvasion. Realtime PCR and western blot were used to detected m RNA and protein expression le vels. mi RNA pulldown and 3' UTR luciferase assays were used to verify the effect of mi R-194 on CUL4 B expression. Result Here, we show that CUL4 B was upregulated in NSCLC tissues and was critically required for cell proliferation and migration. Furthermore, we found that CRL4 B represses mi R-194 by cata lyzing monoubiquitination at H2 AK119 and by coordinating with PRC2 to promote trimethylation a t H3 K27 at the clusters encoding mi R-194. Inhibition of mi R-194 was further shown to be able to r escue the defects in proliferation and migration of lung cancer cells resulted from CUL4 B knockdo wn. Moreover, knockdown of CUL4 B decreased the expression of the mi R-194 downstream targe ts RBX1, a subunit of CRL4 B and overexpressed in a number of human tumors. Conclusion Together with the previous results we obtained that CUL4 B is a target of mi R-194, th ese data thus establish a double negative feedback loop between mi R-194 and CRL4 B whose dy sregulation contributes to tumorigenesis. Given the important roles of mi R-194 cluster genes in tu mor progression, these results provided new evidence to support the oncogenic roles of CUL4 B, and trongly support further development of anti-CUL4 B inhibitor against NSCLC.

关键词： NSCLC CUL4B promote proliferation and migration of non-small-ce ll lung cells through epigenetically repression of miR-194 miR

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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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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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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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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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