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N-糖基化 1

保障供给 1

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新孢子虫病,分子流行病学,群体遗传学,基因组学,宿主反应,疫苗 1

水产养殖 1

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Comments on this special issue on “Wheat Genetics and Breeding”

Zhonghu HE, Xu LLU

《农业科学与工程前沿(英文)》 2019年 第6卷 第3期   页码 309-309 doi: 10.15302/J-FASE-2019264

Highlights of special issue on “Wheat Genetics and Breeding”

Zhonghu HE, Zhendong ZHAO, Shunhe CHENG

《农业科学与工程前沿(英文)》 2019年 第6卷 第3期   页码 207-209 doi: 10.15302/J-FASE-2019263

The genetics of Beh?et’s disease in a Chinese population

null

《医学前沿(英文)》 2012年 第6卷 第4期   页码 354-359 doi: 10.1007/s11684-012-0234-2

摘要:

Beh?et’s disease is defined as a multisystemic inflammatory disease. Although the precise pathogenesis and etiology is still a mystery, accumulating evidence shows that genetic variants of immune-related genes have a profound influence on the development of Beh?et’s disease. To explore the genetic factors for Beh?et’s disease, our group investigated the association of Beh?et’s disease with multiple immune response genes and has identified multiple Beh?et’s disease-related immunoregulatory pathways in the Chinese Han population. A large number of gene polymorphisms were studied including STAT4, IL23R, CD40, CCR1/CCR3, STAT3, OPN, IL17, JAK2, MCP-1, CTLA4, PD-1, PD-L1, PD-L2, TGRBR3, CCR6, PTPN22, FCRL3, IRF5, SUMO4 and UBAC2. Significant associations were found between Beh?et’s disease and STAT4, IL23R, CD40, CCR1/CCR3, STAT3, MCP-1, TGFBR3, FCRL3, SUMO4, UBAC2. These genetic predisposition studies support an important role for both lymphocyte differentiation as well as ubiquitination pathways. These findings are helpful in elucidating the pathogenesis of Beh?et’s disease and hopefully will allow the development of novel treatment regimes.

关键词: Beh?et’s disease     SNPs     immune gene     genetic study    

Genetics of ischemic and hemorrhagic stroke in Chinese population

Wei-Li ZHANG MD, PhD, Ru-Tai HUI MD, PhD,

《医学前沿(英文)》 2010年 第4卷 第1期   页码 21-28 doi: 10.1007/s11684-010-0013-x

摘要: Stroke is a major cause of adult death and disability worldwide. Epidemiological and animal studies have provided strong evidence that the pathogenesis of stroke is multi-factorial and induced by a combination of environmental and genetic risk factors, but the identification of individual causative variants remains little known. Genetic influences are likely to be polygenic with small effect sizes, and stroke itself consists of a number of different subtypes which may each have different genetic profiles. In addition, various ethnic populations may have different stroke risk, such as Asian race. The reasons for high risk of stroke among the Chinese, especially hemorrhagic stroke, remain unknown. Most human studies have taken a candidate gene approach using case-control methodology. To be reliably detected, small relative risks require large sample sizes, probably 1000 patients or more. Genome-wide association (GWA) study is an unbiased and comprehensive approach to identify common risk alleles for complex diseases. Recently, a multistage GWA study has identified three loci on chromosomes 2q, 8q and 9p to be associated with intracranial aneurysm in European and Japanese populations. Another GWA finding is the identification of risk variants for cardioembolic stroke on chromosome 4q25 in European populations. In this review, we mainly focus on the results from case-control association studies on genetic factors that play a role in the risk of ischemic and hemorrhagic stroke in Chinese population. The combined effects of multiple susceptibility genes for stroke risk are also summarized.

关键词: genetics     ischemic stroke     hemorrhagic stroke     association study    

Polycystic ovary syndrome

Zi-Jiang CHEN, Yuhua SHI

《医学前沿(英文)》 2010年 第4卷 第3期   页码 280-284 doi: 10.1007/s11684-010-0098-2

摘要: Polycystic ovary syndrome (PCOS) is a common gynecologic endocrinopathy. The pathogenesis of PCOS is associated with both heredity and environment. PCOS has adverse impacts on female endocrine, reproduction, and metabolism. PCOS can impact women’s reproductive health, leading to anovulatory infertility and higher rate of early pregnancy loss. PCOS has additional metabolic derangements, such as insulin resistance, impaired glucose tolerance, and dyslipidemia. The risks of diabetes, cardiovascular disease, hypertension, metabolic syndrome, and endometrial cancer among PCOS patients are significantly increased as well.

关键词: polycystic ovary syndrome     genetics     metabolic disturbance    

Exome sequencing greatly expedites the progressive research of Mendelian diseases

null

《医学前沿(英文)》 2014年 第8卷 第1期   页码 42-57 doi: 10.1007/s11684-014-0303-9

摘要:

The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.

关键词: genetics     whole-exome sequencing     Mendelian disease     disease gene    

Genetics analysis of haptoglobin gene in Fujian Han nationality

ZOU Qilian, LIN Ying, LIN Xiangquan, CHEN Yuanzhong

《医学前沿(英文)》 2008年 第2卷 第1期   页码 105-107 doi: 10.1007/s11684-008-0019-9

摘要: To study the genetic features (characteristics) of haptoglobin gene, four different age groups of Fujian Han people were investigated. The phenotypes of the haptoglobin of four different groups were analyzed by using polyacrylamide gel electrophoresis. The frequency of in the population of Fujian Han nationality accounted for 0.340, among which children, youths, middle aged and elder groups were 0.307, 0.338, 0.363 and 0.383, respectively. The Hp phenotype frequency was 0.026 in which the four age groups accounted for 0.032, 0.046, 0.014 and 0.014, respectively. The frequency of gene is rising with increasing age. The frequency of Hp phenotype is highest in the middle aged group and then tends to drop with increasing age.

关键词: different     haptoglobin     phenotype frequency     electrophoresis     middle    

水产遗传育种与水产种业发展战略研究

桂建芳,包振民,张晓娟

《中国工程科学》 2016年 第18卷 第3期   页码 8-14 doi: 10.15302/J-SSCAE-2016.03.002

摘要:

20多年来,随着水生生物学和生物技术的发展,我国在水产遗传育种与种业方面取得了诸多进展,但也面临着机遇和挑战。本文围绕种质资源保存与利用、遗传机制解析与功能基因挖掘、优良性状新品种选育、水产种业建设等,开展国内外遗传育种现状对比分析研究,分析了当前存在的一些问题,提出未来特别是“十三五”期间水产遗传育种科技发展目标和重点任务。

关键词: 水产养殖     水产遗传育种     水产种业    

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China

null

《医学前沿(英文)》 2013年 第7卷 第3期   页码 389-394 doi: 10.1007/s11684-013-0281-3

摘要:

Despite the current acceleration and increasing leadership of Chinese genetics research, genetics and its clinical application have largely been imported to China from the Occident. Neither genetics nor the scientific reductionism underpinning its clinical application is integral to the traditional Chinese worldview. Given that disease concepts and their incumbent diagnoses are historically derived and culturally meaningful, we hypothesize that the cultural expectations of genetic diagnoses and medical genetics practice differ between the Occident and China. Specifically, we suggest that an undiagnosed diseases program in China will differ from the recently established Undiagnosed Diseases Program at the United States National Institutes of Health; a culturally sensitive concept will integrate traditional Chinese understanding of disease with the scientific reductionism of Occidental medicine.

关键词: genetics     cultural differences     undiagnosed diseases program    

Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies

null

《医学前沿(英文)》 2015年 第9卷 第2期   页码 146-161 doi: 10.1007/s11684-014-0373-8

摘要:

Obesity prevalence has increased in recent years. Lifestyle change fuels obesity, but genetic factors cause more than 50% of average variations in obesity. The advent of genome-wide association studies (GWAS) has hastened the progress of polygenic obesity research. As of this writing, more than 73 obesity susceptibility loci have been identified in ethnic groups through GWAS. The identified loci explain only 2% to 4% of obesity heritability, thereby indicating that a large proportion of loci remain undiscovered. Thus, the next step is to identify and confirm novel loci, which may exhibit smaller effects and lower allele frequencies than established loci. However, achieving these tasks has been difficult for researchers. GWAS help researchers discover the causal loci. Moreover, numerous biological studies have been performed on the polygenic effects on obesity, such as studies on fat mass- and obesity-associated gene (FTO), but the role of these polygenic effects in the mechanism of obesity remains unclear. Thus, obesity-causing variations should be identified, and insights into the biology of polygenic effects on obesity are needed.

关键词: obesity     genetics     genome-wide association studies     body mass index     fat mass- and obesity-associated gene    

发展我国大豆遗传改良事业 解决国内大豆供给问题

盖钧镒

《中国工程科学》 2003年 第5卷 第5期   页码 1-6

摘要:

文章从近年我国大豆生产状况及进口大豆增长速率提出我国面临的大豆供给问题,从大豆在国人营养的历史地位和现代加工利用地位论证了保障供给的必要性,指出只有立足本国生产适当进口调济,才能真正保障供给。提出发展我国大豆生产的五方面措施,并就发展我国大豆遗传改良这个最重要的技术方面,提出了建立并完善我国大豆育种研究体系;围绕大豆遗传改良建设多学科相互交叉渗透的研究队伍和研究氛围;对高产材料与高产理想型的塑造、杂种种子生产与杂种优势利用、重要品质性状指标的突破等关键问题组织协同攻关,突破一点带动全面;发展我国大豆基因组学研究,促进大豆育种技术革新等4点建议。

关键词: 豆生产     保障供给     进口调控     发展措施     遗传改良    

近十二年人类蛋白质N-糖基化的全基因组关联研究综述 Review

Anna Timoshchuk, Sodbo Sharapov, Yurii S. Aulchenko

《工程(英文)》 2023年 第26卷 第7期   页码 17-31 doi: 10.1016/j.eng.2023.03.013

摘要:

人类分泌的以及膜结合的大多数蛋白质都有共价连接的寡糖链或聚糖。糖基化影响着蛋白质的物理和化学性质及其生物功能。不难理解,蛋白质糖基化的改变与越来越多的人类疾病有关,而聚糖也越来越多地被视为潜在的治疗靶点、治疗药物的重要组成部分和生物标志物。尽管糖基化途径在生化方面被研究得很透彻,但人们对指导人类体内这些生化反应的细胞和组织特异性调节的基因网络知之甚少。由于缺乏对糖组变化的调控机制以及糖组与人类健康和疾病之间联系的详细了解,人类糖生物学的临床应用进展缓慢。人类遗传学和基因组学是用于提供人类体内糖生物学知识的两种亟待开发的工具,它们为剖析复杂性状的生物学特性提供了一种强大的数据驱动型不可知方法。本文总结了人类群体糖原组学的现状。在第1节中,简要概述了N-聚糖的结构组织;在第2节中,介绍了主要的血浆糖蛋白。接下来,在第3节中,总结、分类并归纳了当前N-糖基化全基因组关联研究(GWAS)的结果,这些研究提供了有关糖基化群体变异遗传调控的新知识。迄今为止,此类研究仅限于分析人体血浆N-糖组以及免疫球蛋白G和转铁蛋白的N-糖基化。虽然与不同组织和糖蛋白的大量糖组相比,这三种糖组只构成了相当有限的集合,但这三种糖组的研究确实可以提供有力的分析和归纳。然后,在第4节中讨论已确定位点中的基因,并在第5节中特别关注具有强支持作用的基因。最后,在第6节和第7节中介绍新发现的特殊案例,重点关注与人类蛋白质N-糖基化有关的基因变异的潜在作用机制和生物靶标。

关键词: 糖组学     聚糖     N-糖基化     基因组学     遗传学     全基因组关联研究    

新孢子虫病——分子流行病学及发病机制综述 Review

Asis Khan, Jahangheer S. Shaik, Patricia Sikorski, Jitender P. Dubey, Michael E. Grigg

《工程(英文)》 2020年 第6卷 第1期   页码 10-19 doi: 10.1016/j.eng.2019.02.010

摘要:

犬新孢子虫(Neospora caninum)是一种囊肿形成的原生动物寄生虫,它是世界范围内牛的流产和新生儿死亡的主要原因。犬新孢子虫具有广泛的中间宿主范围,其有性繁殖只在犬科动物中发生。另一种新孢子虫——休斯新孢子虫也已经被发现,它能导致马的脑髓炎。虽然分子流行病学研究尚处于起步阶段,但核糖体小亚单位RNA(small subunit ribosomal RNA, ssuRNA)和犬新孢子虫物种特异性DNA探针(pNc5)中的18S rRNA和ITS1区域已被广泛应用于区分新孢子虫和其他密切相关的顶复门寄生虫。虽然这些重复区域比管家或抗原基因具有更高的敏感性和特异性,但它们具有较低的区分能力,无法捕捉物种内部的多样性。同样,尽管多个小卫星或微卫星标记研究显示了新孢子虫体内清晰的地理亚结构,但由于不同等位基因的大小在微卫星位点上趋同(称为同形质),虫株往往被错误分类。只有一株名为N. caninum Liverpool(Nc-Liv)的虫株被进行基因组测序,并与其近亲弓形虫(Toxoplasma gondii)进行了比较。因此,需要基于全世界多个虫株的全基因组序列进行详细的群体基因组学研究,以便更好地了解新孢子虫目前的种群遗传结构,最终
确定能够更有效对抗牛新孢子虫病的疫苗候选者。本文的目的是概述我们目前对新孢子虫的分子流行病学和基因组学的理解,并将其与密切相关的顶复门寄生虫哈蒙球虫和弓形虫结合起来。

关键词: 新孢子虫病,分子流行病学,群体遗传学,基因组学,宿主反应,疫苗    

Genetic variants in the ADD1 and GNB3 genes and blood pressure response to potassium supplementation

Dai-Hai YU PhD, Jian-Feng HUANG MD, Ji-Chun CHEN MS, Jie CAO MS, Shu-Feng CHEN PhD, Dong-Feng GU MD, PhD, for the GenSalt Collaborative Research Group, De-Pei LIU PhD, Lai-Yuan WANG PhD, Jing CHEN MD, MSc, Jiang HE MD, PhD, Cashell E. JAQUISH PhD, Dabeeru C. RAO PhD, Charles GU PhD, James E. HIXSON PhD, Chung-Shiuan CHEN MS8, Paul K. WHELTON MD, MSc9,

《医学前沿(英文)》 2010年 第4卷 第1期   页码 59-66 doi: 10.1007/s11684-010-0015-8

摘要: Dietary potassium-supplementation has been associated with a decreased risk of hypertension and other cardiovascular outcomes. However, blood pressure (BP) responses to potassium supplementation vary among individuals. This study was designed to examine the association between 12 single nucleotide polymorphisms (SNPs) in the adducin 1 alpha (ADD1) and guanine nucleotide binding protein (G protein) beta polypeptide 3 (GNB3) genes and systolic BP (SBP), diastolic BP (DBP), and mean arterial pressure (MAP) responses to potassium-supplementation. We conducted a 7-day high-sodium intervention (307.8 mmol sodium/day) followed by a 7-day high-sodium with potassium-supplementation (60 mmol potassium/day) among 1906 Han Chinese participants from rural north China. BP measurements were obtained at the end of each intervention period using a random-zero sphygmomanometer. We identified significant associations between ADD1 variant rs17833172 and SBP, DBP, and MAP responses to potassium-supplementation (all <0.0001) that remained significant after adjustment for multiple comparisons. In participants that were heterozygous or homozygous for the G allele of this marker, SBP, DBP, and MAP response to potassium-supplementation were −3.52 (−3.82, −3.21), −1.41 (−1.66, −1.15) and −2.12 (−2.37, −1.87), respectively, as compared to the corresponding responses of 1.99 (0.25, 3.73), −0.65 (−0.10, −0.21), and −0.23 (−0.37, 0.83), respectively, for those who were homozygous for A allele. In addition, participants with at least one copy of the G allele of rs12503220 of the ADD1 gene had significantly increased DBP and MAP response to potassium-supplementation ( = 0.0041 and 0.01, respectively), which was also significant after correction for multiple testing. DBP and MAP responses to potassium-supplementation were −1.36 (−1.63, −1.10) and −2.07 (−2.32, −1.82) for those with at least G allele compared to corresponding responses of 0.86 (−0.68, 2.40) and −0.45 (−1.74, 0.84) for those who were homozygous for A allele. In summary, our study identified novel associations between genetic variants of the ADD1 gene and BP response to potassium-supplementation, which could have important clinical and public health implications. Future studies aimed at replicating these novel findings are warranted.

关键词: blood pressure     genetics     polymorphism     die-tary potassium     potassium sensitivity     adducin 1 alpha (ADD1)     guanine nucleotide binding protein beta polypeptide 3 (GNB3)    

标题 作者 时间 类型 操作

Comments on this special issue on “Wheat Genetics and Breeding”

Zhonghu HE, Xu LLU

期刊论文

Highlights of special issue on “Wheat Genetics and Breeding”

Zhonghu HE, Zhendong ZHAO, Shunhe CHENG

期刊论文

The genetics of Beh?et’s disease in a Chinese population

null

期刊论文

Genetics of ischemic and hemorrhagic stroke in Chinese population

Wei-Li ZHANG MD, PhD, Ru-Tai HUI MD, PhD,

期刊论文

Polycystic ovary syndrome

Zi-Jiang CHEN, Yuhua SHI

期刊论文

Exome sequencing greatly expedites the progressive research of Mendelian diseases

null

期刊论文

Genetics analysis of haptoglobin gene in Fujian Han nationality

ZOU Qilian, LIN Ying, LIN Xiangquan, CHEN Yuanzhong

期刊论文

水产遗传育种与水产种业发展战略研究

桂建芳,包振民,张晓娟

期刊论文

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China

null

期刊论文

Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies

null

期刊论文

发展我国大豆遗传改良事业 解决国内大豆供给问题

盖钧镒

期刊论文

近十二年人类蛋白质N-糖基化的全基因组关联研究综述

Anna Timoshchuk, Sodbo Sharapov, Yurii S. Aulchenko

期刊论文

新孢子虫病——分子流行病学及发病机制综述

Asis Khan, Jahangheer S. Shaik, Patricia Sikorski, Jitender P. Dubey, Michael E. Grigg

期刊论文

Genetic variants in the ADD1 and GNB3 genes and blood pressure response to potassium supplementation

Dai-Hai YU PhD, Jian-Feng HUANG MD, Ji-Chun CHEN MS, Jie CAO MS, Shu-Feng CHEN PhD, Dong-Feng GU MD, PhD, for the GenSalt Collaborative Research Group, De-Pei LIU PhD, Lai-Yuan WANG PhD, Jing CHEN MD, MSc, Jiang HE MD, PhD, Cashell E. JAQUISH PhD, Dabeeru C. RAO PhD, Charles GU PhD, James E. HIXSON PhD, Chung-Shiuan CHEN MS8, Paul K. WHELTON MD, MSc9,

期刊论文