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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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)