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Long noncoding RNA H19 inhibits the proliferation of fetal liver cells and the Wnt signaling pathway

Long noncoding RNA H19 inhibits the proliferation of fetal l...

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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： wang fang wang shaobing wu xia liu yan yuan jihang huang jinfeng yang fu sun shuhan zheng jiasheng Department of Medical Genetics Second Military Medical University Department of Infectious Diseases The Second Affiliated Hospital of Harbin Medical University

Objective H19 has been reported to repress proliferation as a precursor of mi R-675;however, in the present study, we found that the transcript level of mi R-675 did not correlate with H19 express ion in mouse fetal liver tissues. Thus, H19 appears to inhibit the proliferation of fetal liver cells via other molecular mechanisms. This study is used to illustrate other molecular mechanisms of H19 inhibition the proliferation of fetal liver cells. Method In this study, we found that H19 is the most strongly differentially expressed long noncodi ng RNA(lnc RNA) during liver development by real-time PCR using H19-specific primers. Moreov er, the function of H19 in fetal liver cells was explored in vitro. Genome-wide Ch IP-seq analysis w as used to elucidate the molecular mechanisms of H19 inhibition the proliferation of fetal liver cell s. Result In this study, we found that H19 is the most strongly differentially expressed long noncodi ng RNA(lnc RNA) during liver development. H19 may inhibit the proliferation of fetal liver cells by blocking the interaction between heterogeneous nuclear ribonucleoprotein(hn RNP) U and actin, which results in gene transcriptional repression. Based on Ch IP-seq analysis, we found that gene s involved in the Wnt signaling pathway are enriched among hn RNP U-binding genes. Further inv estigation demonstrated that hn RNP U has opposing effects on cell proliferation and Wnt/b-cateni n signaling pathway activity compared to H19 and that hn RNP U is very important in this process. Conclusion Our findings provide a novel understanding of the role of H19 in liver development.

关键词： RNA Wnt Long noncoding RNA H19 inhibits the proliferation of fetal liver cells and the Wnt signaling pathway

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Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susceptibility May Be Independent of Reduced Sperm Pr oduction in Males with Normozoospermia

Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susc...

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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： Yang Yuan Tu Wenling Liu Yunqiang Shen Ying Yan Yuanlong Wang Xianding Yang Dong Li Lei Ma Yongyi Tao Dachang Zhang Sizhong Department of Medical Genetics State Key Laboratory of Biotherapy West China Hospital Sichuan University Department of Urology West China Hospital Sichuan University Chengdu Reproductive Medicine Institute Chengdu Women's and Children's Central Hospital Reproductive Medicine Center West China Second Hospital Sichuan University

Objective Non-obstructive azoospermia(NOA) is a complex, multifactorialdisease. Recent geno me-wide association studies(GWAS) have identified eight NOA susceptibility loci at genome-wid e significance of P< 5.0 X10-8 in Han Chinese from southeastern, northern, and central China. Method To better understand the role of the variants in conferring NOA risk, we selected four GW AS loci(HLA-DRA rs3129878, PRMT6 rs12097821, SOX5 rs10842262, and PEX10 rs2477686) t hat were reported before 2014 to investigate their association with NOA and their potential effects on sperm production in 1177 Han males from southwest China, including 545 patients with idiopa thic NOA and 632 controls with normozoospermia. Result The results confirmed that the HLA-DRA rs3129878 was an NOA susceptibility locus in th e present population. Along with our data, meta-analyses supported the association of the four G WAS-linked loci with NOA, whereas an additive effect of the four loci on NOA susceptibility was n ot found. Interestingly, the normozoospermic males with the risk genotypes of rs12097821 and rs3129878 + rs10842262 + rs12097821 were observed to have higher total sperm counts relative t o non-risk genotypes. Conclusion Our work suggests that the risk alleles of the genetic loci may not be via impairing sp ermatogenic ability to express susceptibility to NOA. These findings may advance our understand ing of the role of the NOA susceptibility loci, although the results need to be confirmed in larger samples.

关键词： NOA Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susceptibility May Be Independent of Reduced Sperm Pr oduction in Males with Normozoospermia

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A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame

A common variant rs2272804 in the 5'UTR of RIBC2 inhibits do...

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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： Ye Yuhua Zhang Li Zhang Qianqian Yu Qiuxia Xu Xiangmin Department of Medical Genetics School of Basic Medical Sciences Southern Medical University

Objective To evaluate the impact of the 5‘UTR variant on the expression of RIBC2 and the varian ce of RIBC2 expression between different genotypes in Chinese population and identify the poten tial interacting genes of RIBC2. Method The wildtype 5‘UTR sequence of RIBC2 was amplified from human genomic DNA and in serted into the psi CHECK-2 plasmid. PCR-mediated mutagenesis was conducted to construct the plasmid with mutant 5‘UTR. Luciferase activity and q PCR were evaluated to compare the expres sion efficiency between the wildtype and mutant construct in translation and transcription levels, r espectively. For population studies, the m RNA levels of RIBC2 were measured after genotyping o f this variant using 30 normal samples. Finally, stable overexpression of RIBC2 was introduced in the HEK293 T cells to investigate the impact of its interacting genes predicted by in-silico studies. Result The variant rs2272804 in 5‘UTR of RIBC2 resulted in a dramatic drop by about 83% comp ared with the wildtype luciferase activity while the m RNA level showed a relatively modest change. In vivo studies for population exhibit the same trends with the dual-luciferase assays, indicating t he variance in expression of RIBC2 in population with different rs2272804. Furthermore, we firstly reported its potential interacting genes TRAF2 and TRIM37, which lead to significant change in e xpression efficiency after overexpression by RIBC2. Conclusion This study firstly reports a functional and common variant in 5‘UTR of RIBC2 which d ramatically inhibits the expression efficiency of RIBC2 both in vivo and in vitro and identifies two i nteracting genes of RIBC2.

关键词： A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame UTR

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Prenatal diagnosis and Genetic counseling for Waardenburg syndrome in Chinese families

Prenatal diagnosis and Genetic counseling for Waardenburg sy...

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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 Wang QIN LITAO LI TAO LIU HONGJIAN MA LINGCAO WU DONG WANG HONGDAN GUO QIANN AN LIAO SHIXIU Institute of Medical Genetics Henan Provincial People's Hospital People's Hospital of Zhengzhou University Department of Otorhinolaryngology Henan Provincial People's Hospital People's Hospital of Zhengzhou University

Objective Waardenburg syndrome（WS） is an auditory-pigmentary disorder with varying combina tions of sensorineural hearing loss and abnormal pigmentation. This study aimed to investigate m olecular pathology and provide prenatal diagnosis of Waardenburg syndrome in Chinese families. Method A total of 11 WS patients from 5 unrelated Chinese families were enrolled. A thorough cli nical examination was performed for all participants. Furthermore, WS patients underwent screening for PAX3, MITF, SOX10, SNAI2 and EDNRB mut ations using PCR-sequencing. Array-based comparative genomic hybridization（a CGH） was used for some patients whose sequence results were normal. After the genotype of the probands and their parents were identified, prenatal geneti c diagnosis was performed for family 01 and 05. Result According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations including a nonsense mutat ion PAX3 c.583 C>T in family 01, a splice-site mutation MITF c.909 G>A in family 03 and a in-fram e deletion MITF c.64749 del GAA in family 05. The mutations（c.583 C>T in PAX3 and c.909 G>A in MITF） were the first time reported in Chinese people. Gene mutation failed to be found in famil y 02 and 04. The prenatal genetic diagnosis of the two fetuses was carried out and showed the tw o babies were normal. Conclusion Our results expanded the spectrum of gene mutations in China. Identification of gen e mutations in these families provided an efficient way to understand the causes of Waardenburg syndrome and improved genetic counseling.

关键词： Prenatal diagnosis and Genetic counseling for Waardenburg syndrome in Chinese families

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Association Study of 5-HT1A, 5-HT2A Polymorphisms with Schizophrenia and Major Depressive Disorder in the Han Chinese Population

Association Study of 5-HT1A, 5-HT2A Polymorphisms with Schiz...

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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： Zhang Rui 上海交通大学bio-x研究院

Objective Schizophrenia(SZ) and major depressive disorder(MDD) are two common severe me ntal disorders that have arisen to public awareness in recent years. Serotonin(5-HT) receptors ha ve been implicated in the pathophysiology of psychiatric disorders especially in MDD and SZ. The aim of this study is to explore whether the variants in the 5-HT1 A and 5-HT2 A gene are suscepti ble to SZ or MDD in the Chinese Han population. Method We conducted this study by recruiting 752 schizophrenia patients, 568 major depressive disorder patients and 846 healthy control subjects in the Han Chinese samples for a case–control study. We genotyped five SNPs(rs1364043, rs10042486, rs6313, rs6311, rs17289304) within th e 5-HT1 A and 5-HT2 A gene using Mass ARRAY? technology. Result The results showed that the 5-HT1 A rs10042486 was significantly associated with SZ(Pall ele = 0.0369, Pgenotype = 0.0098). Moreover, the haplotype(C-T) composed of rs10042486 and rs1364043 showed significant difference between SZ cases and healthy controls(P = 0.0302) while another haplotype(T-G) was significant for MDD(P = 0.0247). Conclusion Our results highlight the role of the 5-HT1 A especially rs10042486 to SZ in the Chin ese Han population. There was no significant association between the 5-HT2 A gene and SZ or M DD. However, considering the limitation of incomplete SNP coverage, further genetic analysis ne ed to be performed in larger size of samples with more saturated SNP coverage and in different e thnic groups. The study shows that it is necessary to continue investigate more on the role of 5-H T1 A and further functional studies are suggested for the elucidation of its molecular mechanisms.

关键词： SNP HT2A Polymorphisms with Schizophrenia and Major Depressive Disorder in the Han Chinese Population Association Study of 5-HT1A MDD

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Characterization of IQCB1/NPHP5-related retinal ciliopathy in a mouse model

Characterization of IQCB1/NPHP5-related retinal ciliopathy i...

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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 Li Baehr Wolfgang Clinical Laboratory Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital Department of Ophthalmology John A.Moran Eye Center University of Utah Health Science Center

Objective Null mutations in the human IQCB1/NPHP5(nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Loken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. NPHP5 protein posses IQ calmodulin(Ca M)-binding motifs, localizes at the photoreceptor cilia with unknown function. In this study, we aim to develop a mouse model of Nphp5-related retinal ciliopathy and to reveal the molecular mechanisms underlying the disease. Method We generated germline Nphp5 knockout mice by placing a β-Geo gene trap in intron 4, thereby truncating NPHP5 at Leu87 and removing all known functional domains. The retinal morphology and function of Nphp5-/-mice were studied by using retinal histology, electroretinography, immunochemistry, and electromicroscopy analysis. Result At eye opening, Nphp5-/-mice exhibited absence of scotopic and photopic electroretinogram responses, a phenotype that resembles Leber congenital amaurosis. Outer segment transmembrane protein accumulation in Nphp5-/-endoplasmic reticulum was evident as early as postnatal day(P)6. EGFP-CETN2, a centrosome and transition zone marker, identified basal bodies in Nphp5-/-photoreceptors, but without fully developed transition zones. Ultrastructure of P6 and 10 Nphp5-/-photoreceptors revealed aberrant transition zones of reduced diameter. Nphp5-/-photoreceptor degeneration was complete at 1 month of age but was delayed significantly in Nphp5-/-;Nrl-/-(cone only) retina. Nphp5-/-mouse embryonic fibroblast developed normal cilia, and Nphp5-/-kidney histology at 1 year of age showed no significant pathology. Conclusion Our results demonstrated that NPHP5 is essential for photoreceptor outer segment formation but is dispensable for kidney and mouse embryonic fibroblast ciliary formation. And it suggests that the failure in photoreceptor ciliogenesis is the underlying mechanisms of IQCB1/NPHP5-related Leber congenital amaurosis.

关键词： Characterization of IQCB1/NPHP5-related retinal ciliopathy in a mouse model

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Identification of a Novel Nonsense Mutation of the NTRK1 Gene in Two Siblings with Congenital Insensitivity to Pain with Anhidrosis

Identification of a Novel Nonsense Mutation of the NTRK1 Gen...

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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 Haibo Wang Ting Xiang Jingjing Wei Bin Zhang Qin Zhu QIn Liu Minjuan Sun Miao Li Hong Center for Reproduction and Genetics The affiliated Suzhou Hospital of Nanjing Medical University The First Affiliated Hospital of Soochow University

Objective Congenital insensitivity to pain with anhidrosis（CIPA）, also known as hereditary senso ry and autonomic neuropathy type IV（HSAN IV）, is a rare autosomal-recessive disorder characte rized by insensitivity to noxious stimuli, recurrent episodes of hyperthermia, self-mutilating behavi ors and intellectual disability. Mutations in Neurotrophic tyrosine kinase receptor type 1（NTRK1） gene were demonstrated to be associated with this disorder. In this study, we described two Chin ese siblings with typical CIPA phenotypes. Mutation screening of the NTRK1 gene revealed that a novel nonsense mutation and a known splice-site mutation are responsible for this disorder. Method Clinical and genetic analyses were conducted on two Chinese siblings with typical sympt oms of CIPA including insensitivity to pain, inability to sweat and self-mutilating behaviors. Periph eral blood was collected from all the family members after giving informed consent. Examination of chromosomal karyotype was performed for both affected children. Genomic DNA was extracte d from the blood samples. All seventeen exons and intron-exon boundaries of the NRTK1 gene were amplified by PCR. The amplified DNA fragments were purified and sequenced in both directi ons using ABI 3130 Genetic Analyzer. The resulting sequences were analyzed and compared wit h the reference sequence of NTRK1（NM02529.3） in the NCBI database. Result Paternal mutation c.7 C>T found within exon 1 is a novel nonsense mutation, which result ed in a premature termination of m RNA translation. Maternal mutation c.851-33 T>A was a splice-site mutation detected within intron 7, which causes aberrant splicing and had been proved to be a pathogenic mutation Conclusion Our findings expand the known mutation spectrum of NTRK1 gene and provide insig hts into future studies related to CIPA.

关键词： Identification of a Novel Nonsense Mutation of the NTRK1 Gene in Two Siblings with Congenital Insensitivity to Pain with Anhidrosis

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A Melting Curve Analysis-Based Nested asymmetric PCR for detecting a2-globin gene mutations

A Melting Curve Analysis-Based Nested asymmetric PCR for det...

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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： wen xiaojun Zhang Qiang Xu Huiling zhang yijia Xiong Fu Xu Xiangmin Zhou Wanjun Department of Medical Genetics School of Basic Medical Sciences Southern Medical University

Objective α-thalassemia mainly caused by deletion or mutation of α2-globin gene. The types of mutations WS, QS, CS, CD30, CD31 are the most common α-globin gene mutations in China. C urrently, detection of mutations is tedious operation, cost-effectiveness, time-consuming, low-thro ughout, and difficult to achieve automation and standardization. The purpose of this study was to design an assay that utilizes fluorescence-based real-time PCR technology to the detect five com mon mutations of α2-globin gene simultaneously, and develop the method for detecting mutations which is accurate, reliable, simple, practical, high-thoughout, capable of achieving automation a nd standardization, available for large-scale screening and becoming a tool of routine molecular d *** The five comom α2-globin gene mutations( WS、QS、CS、CD30、CD31)were used a s a target to detect. Our study was utilized a melting curver analysis assay to detect mutations wi th the strategy of nested asymmetric PCR to produce single-chain, and then the mutation site of specific probes were designed to hybridize with single strand,eventually achieving the detection of five common mutations of α-globin gene simultaneously. Result Accuracy analysis: we developed a rapid detection technology to detect α2 globin gene m utations, the accuracy of the assays was tested in 300 cases of samples, including 282 cases of αα/αα、8 cases of αCSα/αα、6 cases of αWSα/αα、3 cases of αQSα/αα and 1 case of αCD30α/αα, which was consistent with the result of RDB and DNA sequencing. Sensitivity analysis: the sensit ivity of the assays was tested in a different concentration of DNA from 5 ng to 50 ng of DNA. 5 ng of DNA concentration was also detected accurately. Conclusion To establish a rapid and simple technology to detect five common α2-globin gene m utations simultaneously by fluorescence-based real-time PCR.

关键词： A Melting Curve Analysis-Based Nested asymmetric PCR for detecting a2-globin gene mutations

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Functional implications of genetic variation in human mi RNA seed regions

Functional implications of genetic variation in human mi RNA...

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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： Zhang Jian Hou Yu Zhao Cunyou Department of Medical Genetics School of Basic Medical Sciences Southern Medical University

Objective Micro RNAs(mi RNAs) are a class of non-coding RNAs important in posttranscriptional repressors involved in the regulation of almost every biological process. Mi RNA-mediated regulati on depends on perfect matching between the seven nucleotides of its seed region and the target sequence usually located at the 3‘ untranslated region of the regulated gene. Hence, even single changes in seed regions may affect mi RNA binding capacity and specificity. Previous studies hav e proven that genetic variations in mi RNAs, especially those in the seed regions, have profound a nd broad impacts on gene expression, phenotypic variation and disease susceptibility in human. Method For the present study, we employed a comparative bioinformatic analysis to explore the f unctional significance of sequence variation within the seed region of human mi RNAs. Result A total of 530 SNPs were mapped to the mi RNA seeds(including the known SNPs in the seed region of mi R-1304, mi R-96 and mi R-184), which are located at position 2-8 of the mature mi RNA sequences. We found that the central positions of the mi RNA seeds(positions 4, 5 and 6) contain fewer genetic variants than the peripheral positions in the seeds(2, 3, 7 and 8), indicated more evolutionary conserved and greater importance of middle seed base positions 4 to 6 in mi R NA function. Analysis of the predicted targets for reference and derived mi RNA alleles indicates that a substitution of even a single nucleotide within the seed region changes the spectrum of m R NA targets by >50%. Additionally, except for most of the genetic variations in mi RNA seed region are involved in human diseases, some SNPs are located in non-coding human adaptive accelerat ed regions after we checked for the diseases association and adaptive evolution of all SNPs in mi RNA seed region. Conclusion We suggest that functional changes of genetic variations in mi RNA seed region ma y prove very useful for understanding the disease pathogenicity an

关键词： RNA Functional implications of genetic variation in human mi RNA seed regions

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Genetic variations at BCL11A, HBS1L-MYB and HBG2 associatied with fetal hemoglobin (HbF) in South China

Genetic variations at BCL11A, HBS1L-MYB and HBG2 associatied...

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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 Jing Xiong Likuan Ma Duan Key Laboratory of Metabolism and Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology Collaborative Innovation Center of Genetics and Development Institutes of Biomedical Sciences School of Basic Medical Sciences Fudan University Center Laboratory Bao‘an Maternal and Children Healthcare Hospital Key Laboratory of Birth Defects Research

Objective β-thalassemia is one of the most common monogenic diseases with phenotype hetero geneity in many populations worldwide, such as in south China. Persistence of fetal hemoglobin(Hb F) is a major contributor to ameliorating severity and modify the clinical course of β-thalassem ia. Adult level Hb F is influenced by genetic variation at loci of BCL11 A and HBS1 L-MYB intergenic region and HBG2. Method For this reason, we investigated the relationship between Hb F levels and the relevant ge netic loci in 476 patients with β-thalassemia from Guangdong province in China. 33 single-nucleotide polymorphism(SNP) analysis of these 3 principle genomic regions was performed following the previous genome-wide association study(GWAS) in different populations using improved multiple ligase detection reaction(im LDR). The data of blood cell parameters, Hb F level relative quantification and β-thalassemia genotype were collected and recorded. Statistical analysis was made with SPSS software(p<0.05, 95%CI of O R>1). Result In our study, we found elevated Hb F level improved the hematological indices of red cell c ount(RBC), hematocrit(HCT) and mean corpuscular volume(MCV) and was more common in th e patients with the mutation types of 17 M/N,-28 M/N, 43 M/N. There were 26 SNPs correlated sign ificantly with Hb F *** addition, 2 haplotypes of HBS1 L-MYB and 1 haplotype of BCL11 A wer e identified and showed association with Hb F production. Conclusion The BCL11 A locus, HBS1 L-MYB intergenic region, and HBG2 locus were associate d with Hb F levels in Guangdong population of South China.

关键词： in South China Genetic variations at BCL11A HBS1L-MYB and HBG2 associatied with fetal hemoglobin HbF MYB

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