蜜蜂（Apis）苹果酸脱氢酶同工酶的研究进展

苹果酸脱氢酶（MDH）是糖代谢中重要的酶。在西方蜜蜂（Apis mellifera L.）中,MDH分为3个区带MDHⅠ、MDHⅡ和MDH Ⅲ。不同级型和不同发育阶段,MDHⅠ和MDH Ⅲ变化不大;MDHⅡ呈现多态现象,由a、b、c3个等位基因编码。东方蜜蜂（A.cerana F.）的MDH由S、F两个等位基因编码,也有报道它是单态性的。MDH在西方蜜蜂研究中应用较多,主要有处女王交配次数;蜂群中的劳动分工;蜜蜂种群遗传组成分析等。MDH和分子生物学的结合研究势必将推动蜜蜂研究的深入和发展。 Research Progress in Malate Dehydrogenase(MDH) of Honeybees LIU Yan-he1,ZHANG Chuan-xi1,XU Bao-hua2,3,CHEN Sheng-lu1 1.Institute of Applied Entomology,Zhejiang University,Hangzhou 310029,China; 2.College of Animal Science,Zhejiang University,Hangzhou 310029,China; 3.College of Animal Sciences,Shandong Agricaltural University,Taian 271018,China Abstract:Malate dehydrogenase(MDH) is an important enzyme in glycometabolism.MDH of Apis mellifera showed three enzyme active zones,MDHⅠ,MDHⅡand MDHⅢ.MDHⅠand MDHⅢ maintained relative stability in different castes and developmental phases,but MDHⅡwas polymorphic,and controlled by three alleles,a,b and c.MDH of Apis cerana was coded by S and F alleles,but some authors reported it is monomorphic.MDH was applied to the studies of A.mellifera,which included several aspects as follows:the number of queen matings,labor division in honeybee societies,the analysis of genetic constitution in honeybee populations and so on.The combination of both MDH and molecular biology will certainly promote honeybee studies. Key words：honeybees;malate dehydrogenase(MDH)     

影响动物肉质性状主要候选基因的研究进展

随着分子生物学在动物遗传育种中的应用,对数量性状主效基因的研究成为必然。本文对影响肉质的脂肪酸结合蛋白基因、肥胖基因、leptin 基因、黑素皮质受体基因、脂蛋白脂酶基因、激素敏感脂酶基因的国内外研究状况加以综述。 Progress in Candidate Genes Influencing Meat Quality Traits in Chickens QIU Xue-mei1,3,LI Ning1,DEND Xue-mei2,WU Chang-xin2 1.The National Laboratories for Agrobiotechnology,China Agricultural University,Beijing 100094,China; 2.College of Animal Science and Technology,China Agricultural University,Beijing 100094,China; 3.College of Animal Science and Technology,Heilongjiang August First Land Reclamation University,Mishan 158308,China Abstract:As the molecular biology has been applied in animal genetics and breeding,it is important that we research major genes on quantitative traits for animal breeding by transgenic technology.In this paper,the research advance of FABP genes,obese gene,leptin gene,MCRs genes,LPL gene,HSL gene affecting meat quality in animals are reviewed. Key words：animal; meat quality; candidate gene     

Cryo-EM structure of an early precursor of large ribosomal subunit reveals a half-assembled intermediate

Assembly of eukaryotic ribosome is a complicated and dynamic process that involves a series of intermediates.It is unknown how the highly intertwined structure of 60S large ribosomal subunits is established.Here,we report the structure of an early nucleolar pre-60S ribosome determined by cryo-electron microscopy at 3.7 A resolution,revealing a half-assembled subunit.DomainsⅠ,ⅡandⅣof 25S/5.8S rRNA pack tightly into a native-like substructure,but domains Ⅲ,ⅣandⅤare not assembled.The structure contains 12 assembly factors and 19 ribosomal proteins,many of which are required for early processing of large subunit rRNA.The Brx1-Ebp2 complex would interfere with the assembly of domains Ⅳ and Ⅴ.Rpf1,Mak16,Nsa1 and Rrp1 form a cluster that consolidates the joining of domainsⅠandⅡ.Our structure reveals a key intermediate on the path to establishing the global architecture of 60S subunits.     

Systems Biology Brings Life Sciences Closer——Report on the China-UK Systems Biology Workshop 2005

The China-UK Systems held during June 20-21 Biology Workshop 2005 was in the National Science Park of Zhejiang University, Hangzhou, China. It was organized by the Institute of Bioinformatics, Zhejiang University, and was initiated by Prof. Dr. Jun Zhu （Zhejiang University） and Prof. Dr. John Findlay （University of Leeds, UK）. The workshop was part of the program called UK-China Partners in Science, a one-year campaign that was initiated by the British government to explore more collaborations between UK and China on science and technology. It was attended also by a representative of this program, Mr. Frank Yuan, senior science ＆ innovation officer. The idea of the workshop was to bring together experts with specialists in systems biology in order to promote the ＂natural partnership＂ between scientists from the two countries. The most important items of systcms biology considered at the workshop were： （1） New technologies and advances in systems biology; （2） Research developments in genomics and proteomics; （3） New methodologies and software in computational biology; （4） Research collaboration on systems biology between China and UK.     

Shu-szi Sin:A Chinese pioneer biologist,ancient agronomist,and educator

Shu-szi Sin(辛树帜,1894-1977)(Fig.1),a Chinese pioneer biologist and ancient agronomist,initiated the earliest sci-entific biological investigation of the Dayao mountain in both Guangxi and Guangdong provinces,discovering more than 20 new species that have been acknowledged internation-ally.He was one of the founders and initiators of the China Botanical Society and the China Zoological Society.Mr.Sin was also a great educator.Among one of those who first introduced the scientific method into agricultural history research,Mr.Sin helped to set up the National Northwest Agriculture and Forestry College(now Northwest A&F University)and the Lanzhou University.He devoted himself to the development of higher education in Northwest China.     

猪LHβ亚基基因的单核苷酸多态性研究

本研究对猪LHβ亚基基因除上游调控区以外的序列进行了SSCP分析,结果发现在该基因的3个外显子和3′调控区内没有任何SNPs位点,仅在内含子1的1367位点和内含子2的1823位点发现2个多态性位点,并对这两个位点在二花脸、约克夏和长白猪3个群体中的基因频率进行了初步分析。 Study on the Single Nucleotide Polymorphisms of the Porcine LHβ Gene WANG Ai-hua1,LI Ning2,WU Chang-xin1 1.College of Animal Science and Technology,China Agricultural University,Beijing 100094; 2.National Laboratory of AgroBiotechnology,China Agricultural University,Beijing 100094 Abstract:SSCP analysis was commanded on the whole sequence of porcine LHβ gene except the upstream control region.No polymorphic site was found in the 3 exons and 3′control region.But there were 2 polymorphic sites in the 1367 site of intron 1 and 1823 site of intron 2.The gene frequencies of the 2 sites in the Erhualian,Yorkshire and Landrace populations were analyzed. Key words：LHβ gene;SNPs;intron;SSCP     

A glimpse of life science research at Tsinghua

<正>Life Science at Tsinghua University has a long and eventful history.The Biology Department,founded in 1926,was among the oldest and most prestigious in China.In 1952,the Biology Department,together with other natural science departments,were eliminated from the University by order of the central government.In 1984,the Department of Biological Science and Biotechnology was re-established,with Professor Poo Mu-ming being the founding Director.In the ensuing 25 years,the Department went through rapid transformations and gained national and international recognition.In September 2009,the Department of Biological Science and Biotechnology was replaced by the School of Life Sciences.     

高脂血症患者脂蛋白脂酶基因外显子4区域变异的研究

为了探讨广东地区高脂血症患者脂蛋白脂酸(lipoprotein lipase,LPL)基因的分子变异,从258例高脂血症患者外周血白细胞中提取基因组DNA,用PCR-SSCP方法分析外显子4及其附近区域,对SSCP带型异常样品进行克隆和序列测定。在2名高脂血症患者LPL基因内含子3的3′端－6bp处发现C→T转换突变,252例正常对照中未发现该突变。IVS-3 的C→T突变可能与高脂血症有关。 Variants of Exon 4 and Its Flanking Region of LPL Genein Patients with Hyperlipidemia ZHAO Ying-she1,YANG Zhong-han2,FENG Jian-sheng1,JIANG Jian-wei1,WU Mei-yu1,ZHOU Tian-hong3 1.Department of Biochemistry,Medical College,Jinan University,Guangzhou 510632,China; 2.Department of Biochemistry,Sun Yat-sen University of Medical Sciences,Guangzhou 510089,China; 3.College of Life Sciences and Technology,Jinan University,Guangzhou 510632,China Abstract:To elucidate abnormalities of LPL gene in hyperlipidemia in the Chinese population in Guangdong,genomic DNA was extracted from leukocyte of 258 patients with primary hyperlipidemia.A segment of LPL gene including exon 4 and its flanking sequences was analyzed by PCR-SSCP.The PCR products with abnormal SSCP pattern were cloned and sequenced. As a C→T transition mutation at-6 bp of intron 3 was found in two Chinese with hyperlipidemia and the mutation was not found in 252 normolipidemic controls,the C→T transition in intron 3 may be related to hyperlipedemia. Key words：lipoprotein lipase;hyperlipidemia;polymerase chain reaction;single strand conformation polymorphism     

Profile of Weibo Song

正Dr.Weibo Song received his Ph.D.degree in the Zoological Institute,Bonn University,Germany,in January 1989.He then joined the College of Fisheries,Ocean University of China(OUC),and was qualified as a lecturer,associate professor and full professor in the following 4 years.During the past two decades,Dr.Song established the Laboratory     

Zoological Research is now one the top-ranked publications in China

正We are pleased to announce that Zoological Research(ZR)has reached a new level this year.On 30 December2013,the China Academic Journals Electronic Publishing House,Library of Tsinghua University and China Scientific Literature Evaluation and Measuring Research Center jointly awarded ZR the"2013 The Highest International Impact Academic Journals of China"in Science,Technology and Engineering for its achievement in internationalizing life sciences research.ZR was among 175 Science and Technology Journals selected for the award from a pool of 4622 journals(3502 Science and Technology Journals and 1120 Humanities and Social     

International Commission for Protection against Environmental Mutagens and Carcinogens. ICPEMC Working Paper No. 10. A new approach to germinal mutation surveillance: pair-wise evaluation of component elements in unidentified multiple congenital abnormalities

In the Hungarian population-based surveillance of germinal mutations, 3 indicator conditions of offspring are being followed, namely 15 sentinel anomalies, Down syndrome and unidentified multiple congenital abnormality. The latter is discussed here as a possible indicator of germinal dominant gene and chromosomal mutations. The component congenital abnormalities of unidentified multiple congenital abnormalities are classified into 45 groups. The component congenital abnormalities were reduced to pairs. A pair is a set of 2 independent component congenital abnormalities in index patients with 2 or more congenital abnormalities. Baseline figures of all component congenital abnormality pairs in 3722 unidentified multiple congenital abnormalities were determined in the study period 1973-1982. The observed data for 1983 were compared with expected occurrences based on baseline figures. This pair-wise evaluation of component elements within unidentified multiple congenital abnormalities seems to be an adequate surveillance method to detect any time cluster of congenital abnormality pairs due to environmental factors including germinal mutagens.     

What proportion of congenital abnormalities can be prevented?

OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention.     

几种主要眼遗传病在我国的发病情况与遗传规律

中国遗传学会眼科遗传协作组于1979年成立后,组织了对国内主要眼遗传病发病情况及遗传规律的研究,现已进行了70万人的普查,整理分析了各种眼遗传病5000余家系。本文报告了先天性红绿色盲、高度近视、视网膜色素变性、先天性上睑下垂、先天性小眼球、先天性白内障、先天性青光眼、Leber视神经萎缩、家族性角膜营养不良、先天性原发性眼球震颤、先天性眼内组织缺损、先天性无虹膜、视网膜母细胞瘤、家族性黄斑变性、近视和原发性青光眼的群体患病率与遗传规律。     

Congenital anomalies in the baboon (Papio spp.)

Background A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26‐year period in a large captive baboon colony. Methods A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. Results We identified 198 congenital anomalies in 166 baboons from 9972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. Conclusions The baboon has an overall frequency of congenital anomalies similar to humans and other non‐human primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon.     

Congenital anomalies associated with congenital hypothyroidism

The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.     

Oculo-facio-cardio-dental syndrome in a girl and her mother

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.     

Evaluation of neonatal screening for congenital adrenal hyperplasia

Neonatal screening for congenital hypothyroidism has been effective in early detection and treatment of the condition. The position with respect to neonatal screening for congenital adrenal hyperplasia has been debated for many years. Some countries have performed congenital adrenal hyperplasia screening for many years, others have conducted pilot studies that were then not adopted. This article endeavours to summarize the complex issues behind decisions whether to screen or not and summarizes the findings of neonatal congenital adrenal hyperplasia screening programmes.     

Congenital skin tube pedicle associated with the constriction band syndrome.

A very rare case of congenital skin tube pedicle with congenital constriction band syndrome was presented. Only one report concerning this bizarre abnormality could be found in the available literature, and no consideration of its etiology has previously been published. In our case, the skin tube was accompanied by the congenital constriction band syndrome, the cause of which is generally thought to be external factors. Thus the etiology of the congenital skin tube pedicle might be the peeling and rolling of a strip of the fetal skin by external force.     

Congenital cataracts: gene mapping

Congenital cataracts are one of the major causes of induced blindness in children. Gene mapping is an important step in understanding the molecular defects of congenital cataracts. Some congenital cataract genes have been mapped, and more genes will be located and identified in the future. The locations and candidate locations of congenital cataract genes are discussed in this review.     

Treatment of congenital upper extremity problems

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Describe the terminology and classification of congenital hand anomalies. 2. Describe the incidence and embryogenesis of some common congenital hand anomalies. 3. Discuss the general principles and goals for treatment of congenital hand anomalies. 4. Describe the management of five of the more common congenital hand anomalies (syndactyly, short digits, thumb duplication, hypoplastic thumb, and radial dysplasia). SUMMARY: Congenital hand anomalies can cause substantial emotional and functional problems. This article reviews the etiology, classification, and management of some of the more common hand anomalies. A general approach to the patient and the goals of treatment are reviewed, as is the approach to five specific congenital hand anomalies: syndactyly, short digits, thumb duplication, hypoplastic thumb, and radial dysplasia.