人类身高的遗传学研究进展

人类身高是由环境和遗传因素共同决定的,遗传学研究发现遗传因素对身高差异的影响更大。身高是典型的多基因遗传性状,科研人员试图运用传统的连锁分析和关联分析寻找和发现对人类身高具有显著影响的常见DNA序列变异,但进展缓慢。近年来,随着基因分型和DNA测序技术的发展,人类身高的遗传学研究取得了很多突破性进展。全基因组关联分析(GWAS)的应用,发现和证实了上百个与人类身高相关的单核苷酸多态性位点(SNPs),拓展了人们对人类生长和发育的相关遗传学认识,同时也为研究人类其他复杂性状提供了理论依据和借鉴。本文综述了人类身高的遗传学研究进展,探讨了目前该研究领域所存在的问题和未来发展方向,以期为今后人类身高相关的遗传学研究提供参考和借鉴。     

第三届全国动植物数量遗传学术讨论会第一轮通知

第三届全国动植物数量遗传学术讨论会拟定于2005年10月28至30日在南京召开。在包括分子数量遗传学在内的生物信息学迅速发展的今天,动物、植物和人类数量遗传学已取得了较大的进展,有必要将从事动植物数量遗传与育种应用的同行组织在一起,共同交流我国动植物数量遗传研究领域几年所取得的重要成果与进展,并探讨数量遗传学的相关问题。     

创伤弧菌毒力相关因子的全基因组关联分析研究

【目的】创伤弧菌是致死率最高的弧菌物种,但目前尚无在全基因组层面挖掘毒力相关因子的研究。本研究以创伤弧菌分离来源(临床和环境)作为不同表型,通过与260株基因组序列进行关联分析,挖掘毒力相关因子,从而进一步了解创伤弧菌致病因素。【方法】对139株创伤弧菌分离株进行高通量测序,获取其全基因组序列;与公共数据库已公开发表的121株基因组整合,使用pyseer软件进行全基因组关联分析,对与不同分离来源显著相关的基因进行注释和解读。【结果】共发现11个基因与临床分离株显著相关,其中9个是本研究新发现的创伤弧菌潜在毒力相关因子。【结论】本研究使用群体基因组学和统计遗传学方法,在全基因组范围扫描挖掘了创伤弧菌毒力相关因子,为深入揭示该物种致病机制、设计新的疫苗和治疗靶点提供了重要依据。     

植物复杂基因组与泛基因组研究现状与展望

基因组是指一个生物体内遗传物质的总和,是生物学研究的关键之一.自2000年拟南芥基因组被测序发表以来,已有超过800个植物基因组相继被破解,极大促进了植物分子生物学、遗传学等领域的发展.即便如此,植物基因组学研究仍然面临一系列挑战,包括高杂合、高重复度、高倍性等复杂基因组的组装和泛基因组的构建等.本文从植物基因组学的发展概况、基因组测序技术、组装算法等三个方面,全面展示了植物基因组的快速发展.其中,介绍了简单基因组装和复杂基因组装的相关策略,总结了“端粒到端粒”(telomere-to-telomere或称T2T)的组装和泛基因组构建方法以及其重要性.最后,对未来植物基因组的发展进行了展望,认为随着技术的不断进步,基因组解析技术和方法将会更加完善,为植物基因组的深入研究提供更多支持.本文为植物T2T、复杂基因组组装和泛基因组的构建方法研究提供了参考依据.     

果蝇——打开生命科学之门的金钥匙

作为一种重要的模式生物,果蝇以其相对清晰的遗传学背景、丰富的表型特定、独特的发育特点而深受研究者青睐,为生命科学特别是遗传学和发育生物学的研究和发展提供了极大的方便。随着果蝇全基因组测序工作的完成,它在胚胎发育、基因表达调控、疾病发病机制等方面的研究中正在发挥更大的作用。     

中国精神分裂症的全基因组关联分析及其转化医学进展

我国在精神分裂症的遗传学和生命组学研究方面取得了很大进展,如在全基因组关联分析(genome-wide association study,GWAS)方面工作获得了一系列成果.随着我国对重大疾病转化医学的逐步关注和重视,利用在精神分裂症上已经获得的广泛和深入的研究结果,寻找精神分裂症各种临床应用的生物标记物研究,系统性地建立适合于类似精神分裂症这类复杂疾病的早期诊断、干预和预防的临床咨询和应用体系等将是该疾病转化医学方面可实施的方法和案例.精神分裂症的转化医学方面还涉及精神分裂症患者的个体化用药方案建立.药物疗效和药物不良反应的个体差异具有较复杂的环境和遗传背景,结合精神分裂症的遗传学病因和药物作用的遗传学差异,将有效发挥治疗药物的功效,并降低重大不良反应在敏感个体上的发生.对精神分裂症这类给国家和社会带来极其重大负担的重大疾病,积极推动我国在此类疾病上的基础研究成果转化和转化医学的实施具有重要的社会效应和积极的带动作用.     

光遗传学技术研究进展

光遗传学技术是结合遗传学和光学对生物体特定细胞实现精确光控的新兴生物技术。自基于微生物视蛋白的光遗传学策略应用以来,光遗传学在视蛋白的开发与优化,基于病毒和重组酶的遗传学定位表达以及光学传输技术等方面都取得了显著进展。光遗传学在现代神经生物学领域应用广泛,在神经环路、行为、中枢神经系统疾病、精神疾病的机理研究中发挥着重要作用。主要介绍光遗传学技术的发展历程,重点介绍光遗传学工具的优化以及定位表达,旨在为光遗传学及相关领域的研究发展提供参考。     

染色体微阵列分析技术在先天性心脏病产前诊断中的应用

正先天性心脏病(congenital heart disease, CHD)是最常见的一种出生缺陷类型,指胎儿期出现的心脏和大血管发育异常.在世界范围内,活产新生儿中CHD的发生率约为4‰～10‰[1～3].根据国家卫生部(现国家卫生健康委员会)公布的《中国出生缺陷防治报告》[4],我国2011年围产期CHD的发生率为40.95/万,是我国排名第一位的出生缺陷类型,也是新生儿死亡的重要原因之一.引起CHD的原因有环境因素、遗传因素以及两者的相互作用,单一已知的某种遗传或环境因素可以解释大约20%～30%的CHD,还有很大一部分CHD病因未明[5～7].随着遗传学技术的快速发展,尤其是染色体微阵列分析(chromosomal microarray analysis,CMA)技术的出现,一系列研究表明,拷贝数变异(copy number variation, CNV)是引起包括CHD在内的多种重大出生缺陷的主要原因之一.目前, CMA已经成为临床上诊断未知病因的智力障碍(intellectual disability,ID)/发育迟滞(developmental delay, DD)和多发性先天畸形(multiple congenital anomalies, MCA)的一线方法[8],其用于CHD的产前诊断也多有报道.本文将围绕CMA在CHD临床产前诊断中的应用进行综述,旨在为该领域的科研人员提供参考.     

鸡基因组计划及在遗传学研究中的应用

鸡,以其独特的生物学特性,成为研究许多生物学问题的重要模式生物。而在长期选育中形成的肉鸡和蛋鸡两大品系则是研究许多遗传性状的分子机制的理想模型。鸡基因组计划的完成,极大推动了以鸡作为模式生物的研究与开发工作。本文重点介绍了鸡基因组学的研究进展,和利用基因组相关信息对鸡的不同品系的数量性状进行遗传学研究的方法策略;并阐明了以鸡作为模式生物,利用基因组学的信息进行发育和遗传学研究的广阔前景。     

基于色盲遗传学教学素材的挖掘及其在教学中应用

在遗传学课程教学中,红绿色盲是X连锁隐性遗传的典型案例。然而红绿色盲只是比较常见的色觉障碍,还有其他临床分型。不同的色盲遗传方式可能不同,致病基因也不同。近年来,关于色盲的致病基因、分子机制、基因治疗等方面取得了很大进展,相关研究成果可以作为很好的素材在遗传学教学中进行使用。本文阐述了基于色盲的遗传学教学素材的挖掘及其在本校遗传学课程中“绪论”“遗传的细胞和分子基础”“伴性遗传”“染色体畸变”“基因突变”“遗传学进展”等章节教学中的应用。通过课堂教授与问答,辅以课后文献检索与阅读,使学生在更好掌握遗传学基本内容的基础上,能拓宽遗传学学术视野,激发学习兴趣。     

微核试验在中国的应用、发展与展望

微核试验是反映染色体损伤的重要试验方法,已广泛应用于遗传、食品、药物、环境等多领域的遗传毒性评估,以及作为有害职业和生活环境暴露人群遗传损害的生物标志物。我国开展微核试验已有二十余年的历史,本文通过检索《中国生物医学文献数据库》(1980~2000),共检索到有关微核的专题研究文献共1316篇,研究内容涉及微核的文献共2083篇。本文对微核的相关信息进行了分析,并结合作者自己的研究工作,回顾了微核试验在中国的应用和发展,总结了我国学者开展该项工作的优势与不足,对微核试验在我国的进一步发展进行了展望。     

CRISPR/Cas9在丝状真菌基因组编辑中的应用

丝状真菌(filamentous fungi)通常指那些菌丝体较发达且不产生大型肉质子实体结构的真核微生物。丝状真菌不仅在自然界物质循环中发挥着重要作用,还与人类健康和工农业生产有着紧密的联系。然而,对丝状真菌进行遗传操作相对困难,极大地妨碍了丝状真菌的遗传学研究。成簇的规律间隔的短回文重复序列及其相关系统(clustered regulatory interspaced short palindromic repeats/CRISPR-associated protein 9, CRISPR/Cas9)是近年来发现的一种存在于细菌和古菌中保守的获得性免疫防御机制。最近,CRISPR/Cas9被开发成为了一种方便灵活的基因组编辑技术。目前,该技术已经广泛应用在不同物种的基因组编辑中。本文概述了CRISPR/Cas9在丝状真菌基因组编辑中的应用进展,旨在为开展该领域的研究工作提供参考。     

AIDS Research and Its Role in China＇s AIDS Prevention and Control Policies

By the end of 2005, the estimated number of HIV infected people in China was 650,000. The seriousness of the epidemic calls for effective control measures to tackle the problems in order to avoid the tragedy in Africa from happening in China. ＂Prevention First＂ is the cornerstone of the country＇s health policy. On 2003 World AIDS Day, Premier Jiabao Wen announced a new national AIDS control policy, ＂Four Frees and One Care＂. This policy clearly shows that the Chinese government has once again taken full responsibility to solve public health problems and has profound impact far beyond the AIDS field. In early 2006, the central government put scientific and technology innovation as a national priority and set the target to build an innovative China by year 2020. Since then, the government has been increasing investment in science and technology with major emphasis on both infectious diseases control and new drug research and development. For the first time, development of 100 new drugs and control of major infectious diseases （AIDS, HBV, TB and other emerging infectious diseases） have been selected as national key scientific projects. China＇s best minds in related fields will be pooled to work together in order to remove the technical barriers blocking efficient control of the major infectious disease in China. Knowledge on molecular epidemiology, immunology, pathogenesis, HAART, as well as HIVDR strains will certainly provide urgently needed scientific information for China＇s AIDS control program. Only evidence-based strategy from good research will provide long-term effective control of AIDS.     

Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention Network

BACKGROUND: Some birth defects surveillance programs utilize a clinician reviewer ("Clinician") to assist the multidisciplinary staff in the process of case review, coding and classification. The untested assumption is that expertise in the evaluation of individuals with birth defects and genetic syndromes in clinical practice, usually clinical genetics, is useful in reviewing medical records. METHODS: We conducted an exploratory survey of the 50 functioning birth defects surveillance programs that participated in the National Birth Defects Prevention Network in 2004. The survey was mailed electronically to program coordinators and included 10 questions with check-off option replies. Open-ended comments were also solicited. RESULTS: Responses were received from 31 of 50 (62%) programs, 21 (68%) which used a Clinician. In addition to the 9 centers that identified themselves as participants in the National Birth Defects Prevention Study (NBDPS), there were 12 non-NBDPS programs using a Clinician, 2 of whom were not clinical geneticists (1 nurse genetic counselor and 1 primary pediatrician). A total of 86% (18/21) of Clinicians were employed part-time or as consultants; 1 was full-time, and 2 were volunteers. In addition to the core activities of classifying defects and reviewing cases to determine if a syndrome was present, over one-half of the Clinicians participated in education of birth defects surveillance programs staff, research, and program development. Most (86%; 18/21) Clinicians had been trained informally for their roles. Only 1 had received a formal performance review. CONCLUSIONS: Aside from the 9 centers in the NBDPS in which the position of Clinician is funded by the Centers for Disease Control and Prevention (CDC), about one-half of the remaining respondent birth defects surveillance programs used a Clinician. Future research is needed to determine why a birth defects surveillance program hires or refrains from using a Clinician, and whether a Clinician accomplishes the desired goals. This survey reveals a lack of formal training for the Clinicians in their roles in the surveillance programs, and a lack of quality monitors, which might be addressed in the future.     

Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects

A spectrum of adverse pregnancy outcomes, including preterm birth, low birth weight, and birth defects has been linked with maternal smoking during pregnancy. This article includes a review of studies investigating interactions between genetic variants and maternal smoking in contributing to birth defects using oral clefting as a model birth defect. The primary gene-smoking studies for other major birth defects are also summarized. Gene-environment interaction studies for birth defects are still at an early stage with several mixed results, but evolving research findings have begun to document clinically and developmentally important interactions. As samples and data become increasingly available, more effort is needed in designing innovative analytical methods to study gene-environment interactions.     

On applications of landscape genetics

Recent assertions in the literature (e.g., Keller et al. 2015) suggest that landscape genetic research has been infrequently applied by practitioners. We were interested to test this assertion, which is difficult to assess, since applications may not be detectable through searches of peer-reviewed literature. Producing publications may not be a goal of practitioners. We developed a method to search the internet for evidence of research applications and evaluated 25 different research fields in the natural sciences. We found that fields with more publications also had more applications, but the field of landscape genetics was less applied than expected based on the number of peer-reviewed publications—only about 4 % of landscape genetics articles were applied. In fact, all research fields in genetics or evolutionary biology were under-applied compared to ‘whole organism’, ecological research fields. This result suggests the lack of applications in landscape genetics may be due to a systemic under-application of genetics research, perhaps related to a lack of understanding of genetics by practitioners. We did find some evidence of landscape genetic applications however, which we sorted into 5 categories: (1) identification of evolutionarily significant units for conservation, (2) managing pathogens and invasive species, (3) natural heritage systems planning, (4) assessing population status, and (5) restoration of populations.     

Birth Weight Reference Percentiles for Chinese

Objective

To develop a reference of population-based gestational age-specific birth weight percentiles for contemporary Chinese.

Methods

Birth weight data was collected by the China National Population-based Birth Defects Surveillance System. A total of 1,105,214 live singleton births aged ≥28 weeks of gestation without birth defects during 2006–2010 were included. The lambda-mu-sigma method was utilized to generate percentiles and curves.

Results

Gestational age-specific birth weight percentiles for male and female infants were constructed separately. Significant differences were observed between the current reference and other references developed for Chinese or non-Chinese infants.

Conclusion

There have been moderate increases in birth weight percentiles for Chinese infants of both sexes and most gestational ages since 1980s, suggesting the importance of utilizing an updated national reference for both clinical and research purposes.     

鸟类学研究:过去二十年的回顾和对中国未来发展的建议

为了解中国鸟类学研究的状况和发展趋势,我们利用在线文献数据库(Web of Science)检索了1991-2010年间发表的与鸟类有关的文献,对中国和其他国家的鸟类学研究论文、研究领域、研究机构等进行了分析和比较。结果发现,中国鸟类学研究发展很快,专业研究人员数量在1991-2010年间增长了近四倍,在国际上发表的研究论文的数量近几年年均增长25%;论文数量占世界的比例已经由1991-2000年的0.46%上升到了2001-2010年期间的1.53%,世界排名由第27位上升至第16位,并且研究领域更加多元化,论文水平不断提高。在鸟类系统发育与演化、合作繁殖和婚配、禽流感、巢寄生等领域的许多成果开始在国际相关领域的高水平刊物上发表,在古鸟类以及雉类和鹤类等濒危鸟类的保护研究方面位居世界前列。但从整体而言,中国鸟类学研究与世界上一些发达国家相比还有很大差距。为此我们对中国鸟类学未来的发展提出了一些建议,包括需要更加关注鸟类的生活史对策、气候变化和城市化对鸟类的影响、鸟类迁徙、濒危物种保护生物学等领域的研究,进一步加强国际交流与合作,规范鸟类研究及数据保存和处理的方法,采取更有效措施加大对青年研究人员的支持力度等。