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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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Downregulation of BRG1 due to the demethylation of intronic Cp G shore attenuated the expression of GATA4 in congenital heart diseases

Downregulation of BRG1 due to the demethylation of intronic ...

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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： Xiao Deyong Qian Yanyan Wang Huijun Ma Xiaojing Huang Guoying Ma Duan Key Laboratory of Metabolism and Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology School of Basic Medical Sciences Fudan University Children Hospital of Fudan University Institute of Biomedical Sciences Collaborative Innovation Center of Genetics and Development School of Basic Medical Sciences Fudan University

Objective BRG1 as an ATPase subunit of SWI/SNF complex is tightly associated with the develo pment of heart. While there is rare reports on its abnormality in CHD patients. The aim of this stud y is to find the possible association between the etiology of CHD and the abnormality of BRG1 in CHD patients. Method The change of BRG1 m RNA level was sketched in normal fetal and postnatal heart. Sub sequently, BRG1 m RNA and protein expression were detected in heart tissue samples from thirt y CHD patients and eleven normal controls. Next, the methylation of BRG1 promoter in patients a nd normal subjects‘ heart was analyzed using Mass ARRAY platform and pyrosequencing. Moreo ver, the expression of GATA4, as a target gene of BRG1 was compared between patients and co ntrols. Result BRG1 showed a high expression in normal fetal heart in the second trimester, while it dec reased after birth. In an addition, in comparison to the normal subjects, BRG1 is marked lower in CHD patients‘ heart. The methylation assay showed that the Cp G shore of BRG1 in the second in tron was demethylated in patients‘ heart. Noteworthily, GATA4 regulated by BRG1 in cardiomyoc ytes also showed a significant decrease in those patients consistent with BRG1. Conclusion Early high expression of BRG1 in fetal heart is probably to maintain the normal early heart development. It is possible that The abnormal expression of BRG1 in human‘s heart further affects the expression of GATA4 and causes CHDs.

关键词： BRG Downregulation of BRG1 due to the demethylation of intronic Cp G shore attenuated the expression of GATA4 in congenital heart diseases

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HES1 accelerated cell apoptosis in Doxorubicin induce DNA damage

HES1 accelerated cell apoptosis in Doxorubicin induce DNA da...

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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： Huang Zixin Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective Notch pathway plays an important role in multiple cell physiological processes, includin g cell differentiation, proliferation, apoptosis and DNA damage respond. As a DNA-binding-depen dent transcriptional repressor of Notch pathway, it has not been determined whether HES1 affect s DNA damage. In this study, we investigated the effect of HES1 in Doxorubicin induce DNA dam age. Method 1. Used Doxorubicin treated the HES1 knockdown and over-expression cell lines.2. Mea sured the apoptotic cells flow cytometry.3. Used Doxorubicin and PARP1 inhibitor co-treated the cells,and measured the cell apoptosis. 4. Immunofluorescence experiment identify the transloca tion of AIF.5. RT-PCR and western blot used to measure the MDM2 p53 m RNA and protein level s.6. p53 inhibitor(Pifithrin-α) and Doxorubicin co-treated the cells,and measured the cell apopto sis.7. Knockdown PTEN in the cells and used Doxorubicin treated the HES1 knockdown and over-expression cell lines. Then measured the apoptotic cells flow cytometry. Result We found that HES1 could promotes cell apoptosis after Doxorubicin treated. When used Doxorubicin and PARP1 inhibitor(Rucaparib) co-treated the cells, we found that HES1 may prom ote translocation of AIF to the nucleus via activating PAR. Besides, the m RNA analysis and weste rn blot shown that the knockdown HES1 promoted the expression of p53 and decreased MDM2 m RNA levels, particularly treatment with Doxorubicin. Next we used p53 inhibitor(Pifithrin-α) and Doxorubicin co-treated the cells. And we found that HES1 could reduce the expression of p53 to i ncrease cell apoptotic in He La S3 cell line. Finally, we treated PTEN knockdown cell lines with Do xorubicin, and found that HES1 participating DNA damage did not via mediating the expression of PTEN. Conclusion Thus, our data provide the first evidence that HES1 could accelerate cell apoptosis v ia the directly regulation of p53 and PARP1 apoptosis pathway in Doxorubicin induced DNA dam age.

关键词： apoptosis HES1 accelerated cell apoptosis in Doxorubicin induce DNA damage DNA

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LINC00651 promote cell migration and invasion involved in activating SNAI1 in gastric cancer

LINC00651 promote cell migration and invasion involved in ac...

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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： Xiufang Liu Huazhang Wu Ying Hu Pihai Gong Wei Song Xiaohui Shen Department of Medical Genetics and Developmental Biology Medical School of Southeast University

Objective Gastric cancer(GC) is the third leading cause of cancer-related deaths worldwide. Mor e than half of GC patients were diagnosed at an advanced stage accompanied by malignant prolif eration or lymphatic metastasis. Metastatic cancer is the main reason leading to death of GC pati ents. Epigenetic regulators and non-coding RNAs have recently gained significant attention in deli neating the complex mechanisms underlying malignant cancer cells metastasis, lots of evidence have shown that nc RNAs played a n important role in cancer progression, and could provide new insights into the malignant biologic al behavior of gastric *** To explore the epigenetic mechanism on cell migration related to GC metastasis, long no n-coding RNA expression profiling have been investigated through lnc RNA microarray. e RNA LIN C00651 is one of overexpression lnc RNA in lung cancer and breast cancer. In our present study, we detected the expression pattern of e RNA LINC00651 in GC cell lines and c ases. The relative expression of LINC00651 detected by q PCR in clinical tissue samples showed the expression levels of LINC00651 is related to the clinicopathological features as well. Increase d expression of LINC00651 was positively correlated with lymph node metastasis in gastric cance r. Employing wound healing assay, transwell migration assay, matrigel invasion assay and flow cy tometry, we analyzed the function of LINC00651 on the migration, invasion and proliferation of G C cells. LINC00651 promoted the cell invasion and migration instead of cell proliferation in GC in vitro. In order to unveil the molecular mechanisms underlying the migration and invation induced by LINC00651, we use Chr omation mmunopricipitation(Ch IP) assay, RNA immunoprecipitation(RIP) assay and molecular b iology technology such as q PCR and western blot in the further study. Result Our data suggested that LINC00651 activated its adjacent gene SNAI1, an EMT related tr anscript factor via enhancer-l

关键词： LINC00651 promote cell migration and invasion involved in activating SNAI1 in gastric cancer

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Combined anti-HBV and anti-PD1 gRNA/cas9 produces a synergistic antiviral effect in HBV infection

Combined anti-HBV and anti-PD1 gRNA/cas9 produces a synergis...

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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： Zhen Shuai Hua Ling Liu Yunhui Lu Jiaojiao Chen Wei Zhao Le Li Xu the First Affiliated Hospital Xi'an Jiaotong University Rongchang Campus southwest University Department of Pharmacology and Toxicology Beijing Institute of Radiation Medicine

Objective Currently, no licensed therapy can thoroughly eradicate hepatitis B virus(HBV) from th e body, including interferon αand inhibitors of HBV reverse-transcription. Recently, clustered regu larly interspaced short palindromic repeat(CRISPR) systems, originally identified in bacteria and archaea, have been found to have effect on the pre-existing HBV covalently closed circular DN A. Targeted HBV with unique CRISPR/Cas9 therapy results in objective responses in HBV treatm ent, however the responses may be short. In contrast, treatment with immune checkpoint inhibitor s results in a lower responses rate, but the responses tend to be more durable. Based on these fi ndings, we hypothesized that surface antigen(HBs Ag)-encoding region of HBV-targeted therapy may synergize with the PD-1 pathway blockade to enhance anti-HBV activity. Method To test hypothesis, we described the effects of the CRISPR/Cas9 that was targeted to th e surface antigen(HBs Ag)-encoding region of HBV and PD1 to explore the response of transgeni c mice. HBs Ag in the media of the sera of mice were analyzed by a quantitative enzyme-linked immunosorbent assay;HBV DNA levels were assessed by fluorogenic quantitative polymerase c hain reaction, immune phenotypes and cytokines expression of human dendritic cells was detecte d by flow cytometry and PCR, and HBs Ag expression in the livers of the mice was assessed by a n immunohistochemical assay. Result The CRISPR/Cas9 system efficiently produced mutations in HBV DNA. HBs Ag secreted i n mouse serum was reduced by CRISPR/Cas9 treatment;Immunohistochemistry showed almo st no HBs Ag-positive cells in the liver tissues of CRISPR/Cas9-treated mice, especially in the co mbined groups The CRISPR/Cas9 system efficiently produced mutations in HBV *** For the first time, our studies demonstrate potent synergistic effects of combination t herapy using HBV-targeted therapy and immune checkpoint blockade PD1 could strengthen the i mmune response and

关键词： HBV DNA CRISPR Combined anti-HBV and anti-PD1 gRNA/cas9 produces a synergistic antiviral effect in HBV infection

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Exome sequencing identifies de-novo DYNC1H1 mutations associated with distal spinal muscular atrophy and malformations of cortical development

Exome sequencing identifies de-novo DYNC1H1 mutations 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： Chen Yulin Xu Yufei Li Guoqiang Li Niu Yu Tingting Yao Ru-en Wang Xiumin Yiping Shen Wang Jian Institute of Pediatric Translational Medicine Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Department of Laboratory Medicine Boston Children's Hospital

Objective To identify the genes and mutations responsible for spinal muscular atrophy with lower extremity predominance(SMA-LED) and malformations of cortical development(MCD). Method We described a 16-month old girl with SMA-LED and a 13-month old girl with MCD. Clini cal and laboratory investigation data including medical history, physical examinations, imaging ex aminations such as the magnetic resonance imaging(MRI) of the brain and the X-ray of the spine and extremities, motor nerve conduction velocity(MCV) analysis and so on were collected and a nalyzed for the two patients. Exome sequencing of the affected patients was performed. The seq uencing data was run on the Next GENe? and the results were uploaded to the online variation a nnotation tool Ingenuity? Variant Analysis?(IPA) for the mutation interpretations. The potential m utations analyzed and filtered by IPA were validated by Sanger sequencing. Several prediction so ftwares such as Poly Phen-2, SIFT, Mutation Assessor, PROVEAN, Mutation Taster were utilized f or the pathogenicity of the validated mutations. Result Exome sequencing identified a novel de-novo heterozygous missense mutation c.3395 G>A(***1132 Glu) in the patient with SMA-LED and a previously reported de-novo heterozygou s missense mutation c.10151 G>A(***3384 Gln) in the MCD patient. Both of the two mutationswere located in the DYNC1 H1 gene. Sanger sequencing validated and confirmed the mutations d e-novo occurred, in which neither maternal nor paternal inheritance could be established. Bioinfor matics predictions for c.3395 G>A and c.10151 G>A and the conversation analysis of the substitut ed amino acids indicated pathogenicity of the mutations. Conclusion We demonstrated that mutations in the tail domain of the DYNC1 H1 protein cause SMA-LED and the mutation in the motor domain of the same protein lead to MCD. DYNC1 H1 is a provital component of cytoplasmic dynein complex, which is a microtubule-related motor involve d in retrograd

关键词： LED SMA Exome sequencing identifies de-novo DYNC1H1 mutations associated with distal spinal muscular atrophy and malformations of cortical development

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The function of Dennd1a in the development of mouse neural tube.

The function of Dennd1a in the development of mouse neural t...

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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： Chen Shuxia Yang Xueyan Zheng Yufang Wang Hongyan The State Key Laboratory of Genetic Engineering and Ministry of Education (MOE)Key Laboratory of Contemporary Anthropology & The Collaborative Innovation Centre of Genetics and Development School of Life Sciences Fudan University Jiangwan Campus

Objective To study the molecular mechanism and function of Dennd1 a in the neural tube defects mouse model. Method A previous large forward screening by using piggy Bac(PB) insertion mouse models for n eural tube defects have revealed that Dennd1 a deficiency could cause mice NTDs. We used this mouse model to further investigate the molecular mechanisms of Dennd1 a in NTDs. The embryo s at E9.5-12.5 were collected and the phenotypes were recorded. Total m RNA was extracted fro m embryo tissues for both genotype confirmation and quantitative polymerase chain reaction(q-P CR) technology. Another set of embryos were used for whole-mount in situ hybridization(ISH) and RNA-seq. Result 1) By using primers spanning the PB insertion point(exon 3 to 5), the m RNA level of Den nd1 a followed the genotype pattern as wild type(WT)>heterozygote(HET)>homozygote(HOMO). The level of a downstream adjacent gene, Lhx2, also shows the downward trend as WT>HET>H OMO. However, q RT-PCR with primers on exon5-7 detected a short form at 3‘ region with the hig hest level of m RNA in HOMO embryos. 2)ISH: The WT embryos have strong signals in the forebr ain, midbrain and hindbrain. The Het and the Homo embryos showed stronger singles than WT a s our probes detect the increased short m RNA of Dennd1 a as the second pair of primers in q-PC R. The Het and Homo embryos also showed signals in the limb bud and spinal cord at tail region.3)RNA-seq: The expression level of total Dennd1 a is up-regulated in Group HOMO, while the Lhx2 is down-regulated. Conclusion 1) PB insertion on Dennd1 a gene caused the brain abnormity, neural tube defects e mbryos and lethality in mice embryos around E10.5. 2)PB insertion destroy the full-length Dennd1 a in mouse, which also had similar effect on Lhx2. 3) PB insertion may cause an alternative splici ng in Dennd1 a gene to induce a short form at 3‘ region.

关键词： The function of Dennd1a in the development of mouse neural tube ISH

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The function and mechanism of CUL4B in obesity and adipogenesis

The function and mechanism of CUL4B in obesity and adipogene...

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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 Peishan Song Yu Zan Wenying 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

Objective CULLIN-RING E3 ligases represent the largest mammalian E3 ligase family, in which each of Cullin family members including CUL4 B serves as a molecular scaffold. Mutations in hum an CUL4 B have been found to be a common cause of X-linked mental retardation. In addition to b eing mentally retarded, patients with CUL4 B mutations also manifest short stature, abnormal gait, absence of speech, central obesity, and other developmental defects. However, the role of CUL4 B in adipogenesis and obesity remains unknown. Method In this study, we investigate the role of CUL4 B in obesity and adipogenesis using adipoc yte-specific Cul4 b knockout mouse(referred to AKO). Result CUL4 B expression in adipose tissue was significantly down-regulated in obesity mice and during adipocyte differentiation, which indicating that the expression of CUL4 B appears to be neg atively correlated with obesity. Using 3 T3-L1 preadipocytes, we found CUL4 B functions as a nega tive regulator of adipogenesis. Next, we generated adipocyte-specific Cul4 b knockout mice. Whe n placed on a HFD, the weight gain and ing WAT mass in AKO mice was significantly accelerated compared to their WT littermates. Adipoctyes from AKO mice appeared to be smaller than WT adi pocytes, especially in ing WAT, indicating that hyperplasia may play a major role in adipose tissue expansion in AKO mice. This result was corrected with the data that knockdown Cul4 b in 3 T3-L1 cells increase adipogenesis. Both glucose intolerance and insulin resistance and adipose tissue i nflammation induced by HFD were significantly attenuated in AKO mice when compared to WT m ice, these results suggest that adipocyte-specific Cul4 b deficiency confers an overall improvemen t in the metabolic phenotypes associated with HFD-induced *** The results that CUL4 B negatively regulate obesity in animal model were consistentl y with the phenotype found in humans with CUL4 B mutations. As the AKO mice with smaller adip ocytes a

关键词： The function and mechanism of CUL4B in obesity and adipogenesis

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A Genome-Wide Association Study Identifies Seven Novel Loci Associated with Primary Biliary Cholangitis in a Han Chinese Population

A Genome-Wide Association Study Identifies Seven Novel Loci ...

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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 xiangdong 东南大学生命科学研究院

Objective Primary biliary cholangitis(PBC) is the most prevalent autoimmune liver disease, leading to severe liver cirrhosis in advanced stages and eventually death as a result of liver failure. The concentration of PBC in family members, especially twins, points strongly to a genetic basis. Multiple genome-wide association(GWA) studies in PBC patients of European ancestry have shown significant association of more than 20 loci with the susceptibility to PBC. However, major differences were observed in a GWA study involving 487 PBC cases of Japanese origin. Here we report that we performed a large case-control GWAS of 1127 PBC subjects and 4074 controls of Han Chinese origin with the goals of identifying additional genetic risk factors for PBC and understanding the significant differences in susceptibility to the disease between European and Asian populations. Method A large case-control GWAS of 1127 PBC subjects and 4074 controls of self-declared Han Chinese origin was performed with the Human Omni Zhong Hua-8 beadchip(v1.1), which contains 894,956 markers covering common, intermediate, and rare variations found within Chinese populations. Among the significant SNPs identified, 2 SNPs from the HLA region and 31 SNPs from 23 non-HLA loci were selected for replication in 907 PBC cases and 2,127 controls, using Sequenom i Plex system. The final combined analysis included 2,029 PBC cases and 6,163 controls. Result We confirmed significant association of the HLA region and 15 non-HLA loci, including 7 novel loci, with PBC. The most significant association was observed with rs9268644, a variant in HLA-DRA region, with the combined p value of 7.83 × 1031. Among the non-HLA loci, the strongest association was observed in rs4979467, a SNP in the TNFSF15-TNFSF8 locus. Among the known risk loci, IL12 A was found to be strongly associated with Han Chinese PBC cohorts, in contrast to the Japanese GWAS result. Multiple SNPs across the CD28-CTLA4 locus reaching genome-wide signif

关键词： A Genome-Wide Association Study Identifies Seven Novel Loci Associated with Primary Biliary Cholangitis in a Han Chinese Population PBC HLA

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Association study of SLC6A2, SLC6A3, DRD2 polymorphisms and major depressive disorder in the Chinese Han population

Association study of SLC6A2, SLC6A3, DRD2 polymorphisms and ...

引用

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： Bi Yan Huang Xiaoye Niu Weibo Chen Shiqing Wu Xi Cao Yanfei Zhang Rui Yang Fengping Wang Lu Li Weidong Xu Yifeng He Lin Yu Tao He Guang Li Xingwang Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Shanghai Institute of Mental Health Shanghai Jiao Tong University Institutes of Biomedical Sciences Fudan University Institute for Nutritional Sciences Shanghai Institutes of Biological Sciences Chinese Academy of Sciences

Objective This study was performed to explore the association between the seven SNPs in dopa minergic and noradrenergic pathway genes(SLC6 A2, SLC6 A3 and DRD2) which related to tyrosi ne metabolism pathway and major depressive disorder in Chinese Han people. Method A SNP genotyping case-control study was carried out in a group of Chinese Han populati on including 568 patients with major depressive disorder and 846 healthy individuals. Moreover, we performed gene-gene interaction analysis and stratified analyses by gender and age. Result Rs2550956 showed significant difference in allelic(p=0.033367) and genotypic frequencie s(p=0.039538) between cases and control before correction. Maker rs1362621 and rs2242446 w ere in strong linkage disequilibrium(D′=0.97). For haplotype analysis, rs3863145-rs2550956(C-T) demonstrated statistical significant difference(p=0.029) between cases and controls. Statisticall y significant results were observed in SLC6 A2 and DRD2 for gene-gene interaction(p=0.0153). I n addition, rs1362621 was found to be prominently associated with MDD in the age-stratified anal ysis(codominant model: p=0.036;recessive model: p=0.010). Conclusion Our study suggests that single loci rs2550956, the haplotype of rs3863145-rs2550956 as well as the interaction of gene SLC6 A2 and DRD2 may play a role in major depressive disor der in Chinese Han population. Rs1362621 may be a risk mutation in the older subgroup of Chine se Han.

关键词： SLC6A3 DRD2 polymorphisms and major depressive disorder in the Chinese Han population Association study of SLC6A2

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