检索结果-内蒙古大学图书馆

您好，读者！请登录

内蒙古大学图书馆

首页
概况
党建
资源
服务
科研支持
- 论文收录引用证明
- 科技查新
知识产权
档案馆
帮助

咨询与建议

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

您的常用邮箱：*

您的手机号码：*

问题描述：

当前已输入0个字，您还可以输入200个字

全部搜索
期刊论文
图书
学位论文
标准
纸本馆藏
外文资源发现
数据库导航
超星发现

高级检索

时间限定

出版年份：

文献类型

图书期刊文献学位论文多媒体

馆藏选择

电子馆藏纸本馆藏

核心期刊

全部期刊 SCI 收录期刊 SSCI 收录期刊 EI 收录期刊 CSCD 收录期刊 CSSCI 收录期刊

语言

中文英文

文献类型

期刊文献图书学位论文标准纸本馆藏

帮助

文字说明：

T=题名（书名、题名），A=作者（责任者），K=主题词，P=出版物名称，PU=出版社名称，O=机构（作者单位、学位授予单位、专利申请人），L=中图分类号，C=学科分类号，U=全部字段，Y=年（出版发行年、学位年度、标准发布年）

检索规则说明：

AND代表“并且”；OR代表“或者”；NOT代表“不包含”；(注意必须大写,运算符两边需空一格)

检索范例：

范例一：(K=图书馆学 OR K=情报学) AND A=范并思 AND Y=1982-2016
范例二：P=计算机应用与软件 AND (U=C++ OR U=Basic) NOT K=Visual AND Y=2011-2016

分类表

所选分类

>> <<

限定检索结果

文献类型

542 篇 会议
1 篇 成果

馆藏范围

543 篇 电子文献
0 种 纸本馆藏

日期分布

学科分类号

412 篇 医学
- 399 篇 临床医学
- 17 篇 基础医学(可授医学...
- 15 篇 医学技术（可授医学...
- 5 篇 口腔医学
- 2 篇 公共卫生与预防医...
- 2 篇 中西医结合
- 1 篇 药学(可授医学、理...
6 篇 理学
- 6 篇 生物学
6 篇 工学
- 4 篇 生物医学工程（可授...
- 1 篇 仪器科学与技术
- 1 篇 公安技术
2 篇 管理学
- 2 篇 管理科学与工程(可...

主题

26 篇 产前诊断
25 篇 综合征
22 篇 基因突变
16 篇 先证者
15 篇 dna
13 篇 染色体核型分析
13 篇 染色体
11 篇 rna
11 篇 基因诊断
10 篇 snp
10 篇 基因突变分析
10 篇 相关性研究
9 篇 基因检测
9 篇 染色体异常
9 篇 基因型
7 篇 分子遗传学
7 篇 杂合突变
7 篇 sma
7 篇 拷贝数变异
7 篇 临床表型

机构

27 篇 上海交通大学医学...
23 篇 河南省人民医院
19 篇 中国医科大学
16 篇 中南大学
15 篇 中山大学
13 篇 中国医学科学院基...
12 篇 复旦大学
12 篇 郑州市儿童医院
11 篇 广州医科大学附属...
11 篇 柳州市妇幼保健院...
9 篇 吉林大学第一医院
9 篇 湖南省妇幼保健院
8 篇 北京大学第一医院
8 篇 温州市中心医院
8 篇 南方医科大学
8 篇 首都医科大学附属...
7 篇 江西省儿童医院
7 篇 山东中医药大学第...
7 篇 柳州市妇幼保健院
7 篇 中山大学附属第一...

作者

23 篇 顾学范
22 篇 余永国
16 篇 严提珍
16 篇 范燕洁
15 篇 邱文娟
15 篇 张惠文
14 篇 王丽丽
14 篇 韩连书
14 篇 叶军
14 篇 邬玲仟
13 篇 唐宁
13 篇 罗世强
13 篇 廖世秀
12 篇 李哲涛
11 篇 张清炯
10 篇 黄际卫
10 篇 张学
10 篇 李伍高
10 篇 梁黎黎
9 篇 刘睿智

语言

399 篇 中文
144 篇 英文

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、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"

共 543 条记录，以下是481-490 订阅

全选清除本页清除全部题录导出标记到"检索档案"

详细简洁

排序：

Osterix decreases the chemosensetivity of breast cancer cells by upregulating GALNT14

Osterix decreases the chemosensetivity of breast cancer cell...

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： Wu Jiahui Duan Rui Bao Qianyi Ma Changyan Department of Developmental Genetics Nanjing Medical University

Objective Breast cancer is one of the most frequently diagnosed cancers and the leading cause of cancer death among females. Systemic chemotherapy remains an important therapy for breast cancer, but both progression-free survival and disease-free survival associated with various com bination regimens are limited because of refractoriness and chemoresistance. Osterix is an essen tial transcription factor involved in osteoblast differentiation and bone formation. In our previous st udies, we have found that Osterix was highly expressed in breast cancer tissues, compared to adj acent tissues. However, the roles of Osterix in the occurance, development and treatment of brea st cancer remain unclear. The objective of this study is to explore the roles and mechanisms of O sterix in the treatment of breast cancer. Method High throughput sequencing using MDA-MB 231 breast cancer cells with Osterix overex pression(231-OE6) and control cells(231-OEC) was used to screen the downstream genes of O sterix. Real-time PCR, western blot and mouse orthotopic tumor model construction were perform ed to verify the regulation of GALNT14 by Osterix. MTT assays were performed to determine the effects of Osterix on the chemosensetivity of MDA-MB 231 cells to paclitaxel(pax) and doxorubici n(dox) treatment. Hoechst staining and apoptosis related molecules detection were applied to elu cidate the mechanisms by which Osterix affect the chemosensetivity of breast cancer cells. Immu nohistochemistry analysis was performed to determine the correlation between Osterix and GALN T14 in clinical samples. Result Totally, 47 up-regulated genes and 74 downregulated genes were obtained and GALNT14 was one of the up-regulated genes. Results of real-time PCR, western blot and mouse orthotopi c tumor model further verified that GALNT14 was regulated by Osterix. Accumulating evidences h ave revealed that GALNT14 is involved in the chemosensetivity of tumor treatment. Therefore we hypothesized that Osterix m

关键词： Osterix decreases the chemosensetivity of breast cancer cells by upregulating GALNT14

来源：评论

学校读者我要写书评

暂无评论

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...

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： 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

来源：评论

学校读者我要写书评

暂无评论

Prenatal diagnosis and Genetic counseling for Waardenburg syndrome in Chinese families

Prenatal diagnosis and Genetic counseling for Waardenburg sy...

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： 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

来源：评论

学校读者我要写书评

暂无评论

Loss of TRPS1 stimulates Epithelial-Mesenchymal Transition and metastasis through FOXA1 repression

Loss of TRPS1 stimulates Epithelial-Mesenchymal Transition a...

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： Yan Guang-Rong Huang Jin-Zhou Chen Min Biomedicine Research Center The Third Affiliated Hospital of Guangzhou Medicinal University Key Laboratory for Major Obstetric Diseases of Guangdong Province Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes

Objective The tricho-rhino-phalangeal syndrome 1(TRPS1) gene, which was initially found to be associated with tricho-rhino-phalangeal syndrome, is critical for the development and differentiation of bone, hair follicles and kidney. However, its role in cancer progression is largely unknown. Method The functions of TRPS1 were analyzed by cellular biological assays in vitro and in vivo. Result We here demonstrated that down-regulation of TRPS1 correlated with distant metastasis, tumor recurrence and survival rate in cancer patients. TRPS1 was frequently down-regulated in high-metastatic breast, colon and nasopharyngeal cancers, and silencing of TRPS1 stimulated epithelial-mesenchymal transition(EMT), migration and invasion in vitro and metastasis in vivo, while TRPS1 over-expression exhibited the opposite effects. Using quantitative proteomics, the negative EMT regulator FOXA1 was shown to be down-regulated by TRPS1 knockdown. Ectopic expression of FOXA1 blocked the enhancement of EMT, migration and invasion induced by TRPS1 silencing. Mechanistically, TRPS1, acting as a transcription activator, directly induced FOXA1 transcription by binding to the FOXA1 promoter. We further showed that down-regulation of TRPS1 was induced by mi R-373 binding to the 3‘UTR of TRPS1. TRPS1, but not TRPS1-3‘UTR, over-expression blocked the enhancement of migration and invasion induced by mi R-373. Conclusion Loss of TRPS1 by mi R-373, acting as a transcriptional activator, promotes EMT and metastasis by repressing FOXA1 transcription, expanding upon its previously reported role as a transcription repressor.

关键词： Loss of TRPS1 stimulates Epithelial-Mesenchymal Transition and metastasis through FOXA1 repression

来源：评论

学校读者我要写书评

暂无评论

New Mechanism Contributing to Diabetic Cardiomyopathy Induced Arrhythmia: O-Glc NAcylation of Cardiac Sodium Channel Nav1.5 protein

New Mechanism Contributing to Diabetic Cardiomyopathy Induce...

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： Yu Peng Hong kui The Second Affiliated Hospial of Nanchang University

Objective Diabetes is a dangerous etiological factor of cardiovascular disease. Myocardial diastolic dysfunction as an early manifestation of diabetic cardiomyopathy(DCM), myocardial systolic dysfunction as an late manifestation of DCM. DCM eventually caused a variety of arrhythmias, heart failure, and even cardiac sudden death. The exact mechanism of DCM inducing arrhythmias has not been illuminated, and majority considered that it was correlated with the ion channel function and expression abnormalities of in ion homeostasis. Method DCM was induced in SD male rats with streptozotocin(STZ group), and control animals were given citrate buffer(control group). Cardiac function and electrical function were measured by echocardiography and electrocardiogram, respectively. Ventricular arrhythmias were induced by programmed electrical stimulation in vivo. Patch clamp experiments were conducted to record Na(+) current(I(Na)) in HEK-293 t cells transfected with human cardiac Na(+) channels(Nav1.5) protein. We used neonatal rat cardiac cells, cultured primary cell with high glucose medium, and simulated diabetes cell model in vitro. Protein and m RNA expression were assessed by Western blot and q RT-PCR, respectively. Result Rat treated with STZ displayed increased susceptibility for inducible ventricular arrhythmias and impaired left ventricle systolic function at 3 months when compared to Vehicle rat, which was associated with disruption of cardiac action potential conduction anddecreased Na(+) current density. In vitro and in vivo experiments, we observed that the expression of cytoplasmic Nav1.5 and the level of O-Glc NAc modification of the total protein were increased, while theexpression of membranal Nav1.5 was decreased. In addition, augmented cytoplasmic Nav1.5 O-Glc NAc modification correlates to decreased Nav1.5 membrane trafficking and Na(+) current density. Conclusion Our findings clearly demonstrate that the elevated levels of O-Glc NAc modification of myocardi

关键词： O-Glc NAcylation of Cardiac Sodium Channel Nav1.5 protein New Mechanism Contributing to Diabetic Cardiomyopathy Induced Arrhythmia

来源：评论

学校读者我要写书评

暂无评论

Fructose 1,6-bisphosphatase deficiency diagnosed by the targeted-next generation sequencing

Fructose 1,6-bisphosphatase deficiency diagnosed by the targ...

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： Li Niu Chang Guoying Xu Yufei Li Juan Yu Tingting Qin Yanrong Wang Xiumin Wang Jian Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine

Objective Fructose-1,6-bisphosphatase（FBPase） deficiency is a rare, autosomal recessive inherited disease caused by the mutation of FBP1 gene and may cause sudden unexpected infant death because of severe hypoglycemia. The symptoms（hypoglycemia, ketosis, acidosis, hyperlactacidemia, and convulsion） of affected individuals are easily confused with several other endocrine genopathies, including hereditary fructose intolerance and phosphoglucomutase *** aimed to perform genetic sequencing to screen disease-causing genes of the four patients and try to give the molecular diagnostic results. Method In the present study, we described the clinical features of four Chinese pediatric patients who were strongly suspected to have inherited metabolic diseases. Targrted-next generation sequencing was used to screen for causal variants in the genome, and the clinically relevant variants were subsequently verified using Sanger sequencing. Result 3 frameshift（c.704 del C, c.72029 del, and c.960 dup G）, 2 missense（D119 N and G164 S） and one splicing（c.825+1 G>A） of FBP1 gene were identified in our four patients, of them, two mutations（c.704 del C, and c.72029 del） were novel. Further in vitro studies in COS-7 cell line demonstrated that the mutation of D119 N had no impact on the protein expression but decreased the enzyme activity, and with which the clinical significance of D119 N can be determined to be likely pathogenic. Conclusion In conclusion, based on the DNA sequencing and functional studies, all of our four patients were finally diagnosed with FBPase deficiency, this report expends the variation spectrum of FBP1 gene.

关键词： Fructose 1,6-bisphosphatase deficiency diagnosed by the targeted-next generation sequencing FBP

来源：评论

学校读者我要写书评

暂无评论

Evaluated the Value of Hb A for Screening Newborn Beta Thalassemia

Evaluated the Value of Hb A for Screening Newborn Beta Thala...

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： Huang Peng Chen Qiuli He Sheng Chen Biyan Lin Li Wei Yuan Xiong Fu Xu Xiang-min Medical Genetics departments Southern medical universityGuangzhou Central Laboratory of Genetic and Metabolism MCH Hospital of Guangxi Autonomous region

Objective To validate the relationship of Hb A composition in newborn peripheral blood and age/g estation-week/weight. To evaluate the value of Hb A for newborn beta thalassemia screening. Method Retrospective analysis 23,586 cases newborn peripheral blood thalassemia screening, t he hemoglobin was detected by capillary electrophoresis;selected 766 cases with Hb A percentag e composition less than 12.0, and genomic DNA was extracted for detecting beta gene mutations by conventional PCR-RDB. 222 cases with abnormal Hb A but without any mutation were further d etected by Sanger-sequencing. Analyzing the relationship of Hb A and beta gene mutation by SP SS. Result There are 4,372 cases high-risk thalassemia of all the 23,586 cases screening, of which, 2,631 cases alpha thalassemia(Hb-Bart‘s or Hb-CS) and 1,741 cases beta thalassemia(Hb A<9.4 or Hb E), the median value of Hb A in population is 17.66. When neonatal age was little than 15 days, there‘s no distinction in Hb A composition(P>0.05);but when older than 15 days, Hb A raise following the age growing, and Hb A composition rise to 85% when 4 month old;moreover, Hb A a nd gestation weeks are positive correlated;whereas, there are no significant relationship between birth weight and Hb A. When Hb A composition threshold defined at 10.5, beta thalassemia scree ning specificity up to 95% with 20.8% of sensitivity, when defined at 11.2, the specificity and sensi tivity is 98% and 14.7%, respectively. Conclusion Comprehensive analysis screening data, we proposed Hb A=10.5 as threshold for ne wborn beta thalassemia screening. To guarantee the screening results, we suggested that neonat al should be less than 15 days old, in addition, gestation week should be consideration.

关键词： Evaluated the Value of Hb A for Screening Newborn Beta Thalassemia

来源：评论

学校读者我要写书评

暂无评论

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...

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： 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

来源：评论

学校读者我要写书评

暂无评论

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

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

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： 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

来源：评论

学校读者我要写书评

暂无评论

Prenatal diagnosis and Genetic counseling for Waardenburg syndrome type Ⅰ and type Ⅱ in Chinese families

Prenatal diagnosis and Genetic counseling for Waardenburg sy...

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： WANG Li Qin litao Li Tao Liu Hongjian Li Wan Wu Dong WANG Hongdan Guo qiannan Liao Shixiu Institute of Medical Genetics Henan Provincial People's Hospital Department of Otorhinolaryngology Henan Provincial People's Hospital

Waardenburg syndrome（WS） is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. This study aimed to investigate molecul ar pathology and provide prenatal diagnosis of Waardenburg syndrome in Chinese families. A tot al of 11 WS patients from 5 unrelated Chinese families were enrolled. A thorough clinical examina tion was performed for all participants. Furthermore, WS patients underwent screening for PAX3, MITF, SOX10, SNAI2 and EDNRB mutations using PCR-sequencing. Array-based comparative g enomic 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 genetic diagnosis w as performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were dia gnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations i ncluding a nonsense mutation PAX3 c.583 C>T in family 01, a splice-site mutation MITF c.909 G>A in family 03 and a in-frame 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 family 02 and 04. The prenatal genetic diagnosis of the two fetuses was c arried out and showed the two babies were normal. Our results expanded the spectrum of gene mutations in China. Identification of gene mutations in these families provided an efficient way to understand the causes of Waardenburg syndrome and improved genetic counseling.

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

来源：评论

学校读者我要写书评

暂无评论

没有更多数据了...

全选清除本页清除全部题录导出标记到“检索档案”

共55页 << < 45 46 47 48 49 50 51 52 53 54 > >>

检索报告对象比较合并检索0

隐藏清空

合并搜索

回到顶部

执行限定条件

内容：

评分：

请选择保存的检索档案：

请选择收藏分类：

订阅名称：

通借通还

温馨提示：

图书名称：

借书校区：

取书校区：

手机号码：

邮箱地址：

一卡通帐号：

电话和邮箱必须正确填写，我们会与您联系确认。

联系人：

所在院系：

联系邮箱：

联系电话：

内蒙古自治区呼和浩特市赛罕区大学西街235号邮编: 010021

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：