The human genome and understanding of common disease: present and future technologies

The study of candidate genes over the past three decades has yielded notable successes in common-disease genetics. During this time, however, interpretation of genetic association studies has been hampered by the use of clinical cohorts of inadequate power and insufficient information on genetic variation in candidate genes. The unavailability of highthroughput and low-cost genotyping technologies has also limited the scope of complex-disease genetic studies. More recently, however, the sequencing and characterization of variation within the human genome has revolutionized genetic studies and enabled full genome-wide scans for genes associated with disease. The identification of disease-associated (causative) genes has illuminated disease mechanisms. The translation of this knowledge into direct clinical benefit in diagnosis, prognosis and therapy for an individual’s disease still remains a challenge. Received 11 September 2006; received after revision 17 December 2006; accepted 18 January 2007     

The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress

The RecQ family of DNA helicases is highly conserved throughout evolution and plays an important role in the maintenance of genomic stability in all organisms. Mutations in three of the five known family members in humans, BLM, WRN and RECQL4, give rise to disorders that are characterized by predisposition to cancer and premature aging, emphasizing the importance of studying the RecQ proteins and their cellular activities. Interestingly, three autosomal recessive disorders have been associated with mutations in the RECQL4 gene: Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndromes, thus making RECQL4 unique within the RecQ family of DNA helicases. To date, however, the molecular function of RECQL4 and the possible cellular pathways in which it is involved remain poorly understood. Here, we present an overview of recent findings in connection with RECQL4 and try to highlight different directions the field could head, helping to clarify the role of RECQL4 in preventing tumorigenesis and maintenance of genome integrity in humans. Received 31 October 2006; received after revision 4 January 2007; accepted 5 February 2007     

人类基因组计划及后基因组研究概论

综述了人类基因组计划及后基因组研究概况，指出该研究将对21世纪的生命科学和人类生活产生巨大的影响，尤其在医疗保健领域意义深远，并展望了其发展前景．     

生物医学研究热点及意义

生物医学研究是目前发展最快、令人振奋的科技领域。本文概述了生物医学的发展趋势，并对生物医学前沿领域的研究热点，如基因组、蛋白质组、细胞信号转导机制、干细胞研究、神经科学研究、生物信息学等进行了分析。对生物技术领域的研究热点，如生物芯片技术、高效基因转移系统技术、组织工程技术和干细胞定向分化技术、基因敲除和敲入技术、克隆技术等进行了综述。提出研究中应该注意针对研究热点选题，注意多学科交叉和集团作战，同时注意知识产权保护。     

大鼠再生肝8种细胞的PPARγ信号通路相关基因转录谱预示脂类代谢活动

为了解大鼠肝再生中肝细胞、胆管上皮细胞、卵圆细胞、星形细胞、窦内皮细胞、库普弗细胞、陷窝细胞、树突状细胞等8种肝脏细胞的PPARγ信号通路相关基因转录谱及其预示的脂类代谢活动,按本卷2期张丽君[1]等方法分离大鼠再生肝8种细胞,检测它们的PPARγ信号通路基因表达谱,分析其预示的生理活动.结果表明,41个PPARγ信号通路相关基因在大鼠肝再生中发生了有意义的表达变化,其中上调、下调和上/下调的基因为9、9、23个,呈现15种表达相关性.相应细胞的基因数为10、6和1,10、12和2,7、7和0,16、8和3,18、7和1,10、6和1,11、20和0,13、9和4.它们的转录谱预示,胆管上皮细胞和星形细胞的脂肪合成、星形细胞和树突状细胞的胆固醇代谢、8种肝脏细胞的脂肪酸运输和脂肪细胞分化、星形细胞、窦内皮细胞和树突状细胞的脂肪酸氧化和糖异生、胆管上皮细胞和树突状细胞的能量代谢增强.上述结果表明,PPARγ信号通路与大鼠肝再生密切相关.     

基因组研究进展

基因组结构和遗传语言的研究是现代生物学的前沿和竞争的焦点，对未来生物学、医学、农学和生物技术的发展有十分重要的意义。分子生物学技术的进步为基因组的研究提供了有用的工具。本文对非细胞生物体、原核生物，真核生物的基因组结构研究现状，特别是人类基因组计划的进展和前景进行了综述。     

人类基因组研究的双刃性问题

本文从多个方面论述了人类基因组计划研究的双重性问题 .指出在进行基因研究的过程中 ,必须注意其安全性问题 .     

信息技术在基因组和蛋白质组研究中的应用

本文综述了信息技术在生物学研究前沿领域,特别是基因组和蛋白质组研究方面的应用,重点展示生物信息技术在信息交流手段、基因克隆与定位、核酸和蛋白质序列分析、空间结构预测和蛋白质功能研究方面的具体运用方法,拓展了生物技术概念的内涵与外延。     

Genomic and genic sequence variation in synthetic hexaploid wheat （AABBDD） as compared to their parental species

In order to understand the genomic changes during the evolution of hexaploid wheat, two sets of synthetic hexaploid wheat from hybridization between maternal tetraploid wheat （AABB） and paternal diploid goat grass （DD） were used for DNA-AFLP and single strand conformation polymorphism （SSCP） analysis to determine the genomic and genic variation in the synthetic hexaploid wheat. Results indicated that more DNA sequences from paternal diploid species were eliminated in the synthetic hexaploid wheat than from maternal tetraploid wheat, suggesting that genome from parental species of lower ploidity tends to be eliminated preferentially. However, sequence variation detected by SSCP procedure was much lower than those detected by DNA-AFLP, which indicated that much less variation in the genic regions occurred in the synthetic hexaploid wheat, and sequence variations detected by DNA-AFLP could be derived mostly from non-coding regions and repetitive sequences. Our results also indicated that sequence variation in 4 genes can be detected in hybrid F1, which suggested that this type of sequence variation could be resulted from distant hybridization. It was interesting to note that 3 out of the 4 genes were mapped and clustered on the long arm of chromosome 2D, which indicated that variation in genic sequences in synthetic hexaploid wheat might not be a randomized process.     

采用正交设计和响应曲面设计法优化芦苇随机扩增多态DNA体系

采用正交设计和响应曲面设计(RSD)优化适合于芦苇[Phragmites australis (Cav.)Trin.ex steud]增多态DNA(RAPD)的反应体系,结果确定芦苇RAPD反应体系的最佳方案为：在PCR扩增程序,冷启动,94℃变性1min,36℃复性90s,72℃延伸2min,40个循环;72℃延伸7min,4℃保存;25μl反应体系包括模板DNA 60ng、三磷酸脱氧核苷酸(dNTP)7．5mmol、Taq酶1．5u、引物5pmol。