选择作用下家鸡淀粉酶的遗传多态性研究 ――基因频率分化、相关效应估计和标记辅助选择试验

对“三黄”鸡4个品系的血液淀粉酶(Amy-1)基因频率进行了估计, 结果表明: Amy-1基因频率具有明显的品系特异性, 父系Amy-1A高; 母系Amy-1B频率高。人工选择可能是导致两个具有相同遗传来源的品系（Ⅱ系和Ⅲ系）Amy-1基因频率发生分化的原因。利用线性模型估计了Amy-1基因的加性效应,结果表明：Amy-1B有利于产蛋性能, 而Amy-1A有利于体重和蛋重的提高。标记辅助选择试验结果表明, 选择Amy-1遗传型来改变家禽品系类型是可能的, 但效果有限, 因此, 对Amy-1的选择应结合于综合的选择方案之中。 Abstract　Gene frequencies at Amy-1 locus were estimated in 4 grand-parent lines of yellow broilers. The results indicated that the male lines exhibited higher frequency of Amy-1A while the female lines were featured by higher frequency of Amy-1B. Differentiation in gene frequencies at Amy-1 locus in line Ⅱ and Ⅲ, which were of identical origin, might be attributable to varied history of selection. Estimation of genotypic and gene effects suggested that Amy-1B was associated with higher laying performance, while Amy-1A was favorable for increased body and egg weights. It was also revealed that changing types of poultry lines by means of altering genotypes at locus Amy-1 was feasible, but its effect was limited. Accordingly, it is preferable to incoporate biochemical marker-assisted selection into complex programs of selection.     

Three-dimensional morphology of the Sinocyclocheilus hyalinus(Cypriniformes: Cyprinidae) horn based on synchrotron X-ray microtomography

Sinocyclocheilus is a cave-dwelling cyprinid genus endemic to southwest China. Several species possess a conspicuous horn on their head, which has been suggested as a constructive troglomorphic trait but lacks substantial evidence. We used noninvasive, high spatial resolution synchrotron X-ray microtomography to investigate the three-dimensional(3D) morphology of the horn of Sinocyclocheilus hyalinus, one of eight such troglobiotic species. 3D renderings demonstrated the osteological components,which were comprised of a rear wall comprised of the supraoccipital bone, a remaining frontal wall with numerous fenestrae, and the bottom continuous with the parietal and epiotic. A horn cavity occurred within the horn. The fenestrae in the frontal wall were continuous in the horn cavity and showed elaborate channeling, and were, connected to the cranial cavity by soft tissue. We tentatively called this configuration the "otocornual connection" due to its anatomic and putative functional similarity to the otolateralic connection in clupeids and loricariids, which provide an indirect pathway to enhance perception of underwater sound signals. This study provides a functional morphology context for further histological and physiological investigations of such horn structures in Sinocyclocheilus cavefish, and we suggest that the horn might enhance acoustic perception to compensate for visual loss in subterranean life, which warrants future physiological examination as lab-reared S. hyalinus become available.     

The hypoxia signaling pathway and hypoxic adaptation in fishes

The hypoxia signaling pathway is an evolutionarily conserved cellular signaling pathway present in animals ranging from Caenorhabditis elegans to mammals.The pathway is crucial for oxygen homeostasis maintenance.Hypoxia-inducible factors(HIF-1αand HIF-2α)are master regulators in the hypoxia signaling pathway.Oxygen concentrations vary a lot in the aquatic environment.To deal with this,fishes have adapted and developed varying strategies for living in hypoxic conditions.Investigations into the strategies and mechanisms of hypoxia adaptation in fishes will allow us to understand fish speciation and breed hypoxia-tolerant fish species/strains.This review summarizes the process of the hypoxia signaling pathway and its regulation,as well as the mechanism of hypoxia adaptation in fishes.     

Development and application of biological technologies in fish genetic breeding

Fish genetic breeding is a process that remolds heritable traits to obtain neotype and improved varieties.For the purpose of genetic improvement,researchers can select for desirable genetic traits,integrate a suite of traits from different donors,or alter the innate genetic traits of a species.These improved varieties have,in many cases,facilitated the development of the aquaculture industry by lowering costs and increasing both quality and yield.In this review,we present the pertinent literatures and summarize the biological bases and application of selection breeding technologies(containing traditional selective breeding,molecular marker-assisted breeding,genome-wide selective breeding and breeding by controlling single-sex groups),integration breeding technologies(containing cross breeding,nuclear transplantation,germline stem cells and germ cells transplantation,artificial gynogenesis,artificial androgenesis and polyploid breeding)and modification breeding technologies(represented by transgenic breeding)in fish genetic breeding.Additionally,we discuss the progress our laboratory has made in the field of chromosomal ploidy breeding of fish,including distant hybridization,gynogenesis,and androgenesis.Finally,we systematically summarize the research status and known problems associated with each technology.     

14种多基因、疑为多基因遗传病的遗传率研究

本文采用Falconer法和其修正法计算了14种多基因疾病的遗传率（h2）。研究结果表明：脑性瘫痪、先天性耳廓畸形、原因不明精神发育迟滞、脊柱侧弯或瑚突有明显遗传倾向（h2>0.75）; 共转性内斜视、唇裂±腭裂、先天性髋关节关节脱位、多指（趾）症、腹股沟斜疝、银屑病（牛皮癣）及原发性癫痫有遗传倾向（0.60< h2<0.75）; 而共转性外斜视、精索静脉曲张、隐睾症以及先天性心脏病（各型）受遗传因素的作用相对较小（h2<0.60）。Abstract: An epidemiologic survey of genetic diseases was carried out in general population from 11 areas, 42 survey sites, 126876 people of Sichuan. With the stratified cluster random samping method, 150 kinds ofgenetic diseases were found according to the diagnostic strandard. And the heritabilities of 14 kinds of polygenic or polygenic-doubted diseases were estimated. The results showed that the contribution of genetic factors to aetiology is greater in cerebral paisy, congenital ear deformity, mental retardation of unknown actiology and scoliosis (h2>0.75). The congenital of genetic factors is moderate in con.comitant esotropia, cleft lip±cleft palate, congenital dislocation of the hip, Polydactyly, inguinal oblique hernia, psoriasis as well as idiopatic epilepsy (0.60< h2<0.75). The contribution of genetic factors is relatively little in concomitant exotropia, varicocele, enorchia and congenital heart disease (various types)( h2<0.60).     

t(9;13)相互易位家系的染色体分析

染色体的相互易位导致不良孕育原因及自发性流产已得到学者们的共识。作者发现一例ｔ（９;１３）（ｐ２４;ｑ１２）相互易位致产后婴儿死亡的女性,并对其家系进行了染色体检查。该核型经湖南医科大学医学细胞遗传学国家培训中心鉴定,为世界首报核型。１病例及家系分析...     

五株大豆根瘤菌噬菌体的普遍性转导

本文研究了5种烈性大豆根瘤菌噬菌体在大豆根瘤菌菌株间的普遍性转导。噬菌体psc和psx能在慢生大豆根瘤USDA110菌株间转导营养缺陷型标记和卡那霉素抗性标记。快生大豆根瘤菌MD3菌株间可通过噬菌体pfm转导营养缺陷标记和卡那霉素抗性标记。噬菌体pfc和pfx可在快生豇豆根瘤菌ANU240及其变种ANU265间转导抗性基因和定位于共生质粒（sym质粒）上的结瘤基因（common nod）。所有转导频率均在10-6~10-7之间。用紫外线处理噬菌体裂解液可以相应提高转导频率。     

中国羌族人群强直性肌营养不良症基因CTG重复序列多态性研究

强直性肌营养不良症是由于MT-PK基因3'非编码区CTG三核苷酸重复序列的过度扩展所致。正常人群中CTG的拷贝数为5-30,而患者在50以上,且具民族差异。目前尚无我国羌族人群的有关资料。为了解中国羌族人群该基因3'UT R CTG三核苷重复序列的分布情况,作者采用PCR、聚丙烯酰胺凝胶电泳、银染和测序等技术,对60例正常羌族人的CTG重复序列进行了分析。共发现8种等位基因,其中CTG拷贝数为5的等位基因最为常见,占30 .83%,其余依次为13拷贝(22.5%)、12(19.17%)、11(15.83%)、14(5.83%)和15(4.17%);拷贝数大于15的等位基因极少,仅检测到一例,为27拷贝;CT G拷贝数在6-10之间的等位基因也很少,仅发现一例为9拷贝,而该等位基因在其它人群尚无报道。60名个体中共发现纯合子18例,其中9例为5/5,2例为11/11,2例为12/12,4例13/13和1例为15/15,杂合率为70%。本系统的多态信息量(PIC)为0.77。羌族和汉族人群该位点的多态性无显著差异。 Abstract:Myotonic dystrophy is associated with an increased number of CTG repeats in the 3’UTR of the myotonic protein kinase gene(MT-PK) located on chromosome 19q13.3.The triplet repeats region of the gene of 60 healthy Qiang subjects from Sichuan province was analyzed by polymerase chain reaction and polyacrylamide gel electrophoresis.A total of 8 alleles were found ranging in size from 5 to 27copies with the most common allele of 5 copies(30.83%).The other major alleles were 11,12 and 13 copies with frequency of 15.83%,19.17% and 22.5%,respectively.An allele of 9 copies was found in a Qiang individual which has never been reported before in other populations.Only 5.83% of alleles were longer than 14 copies and one longer than 15 copies.Heterozygote frequency in this population was 70%.The CTG repeats is highly informative with a PIC value of 0.77.There is no significant difference between Qiang and Han population in the distribution of the CTG allele frequencies.     

Deoxyribozymes inhibit the expression ofperiod1 genein vitro

Throughout biology, a broad range of biochemical and physiological processes oscillate with approxi-mately 24-h rhythms or circadian rhythms as synchro-nizing with the rhythmic environment (day/night cy-cles, seasons, etc.). The circadian rhythms are under the control of an endogenous oscillator, the circadian clock[1]. Period (per), the first genetically identified circadian mutant[2], is assumed to be a key molecule in the regulation and functioning of the mammalian cir-cadian clock which is…     

不同镇痛方法对患者IL-6、IL-8、IL-10的影响

目的评价不同镇痛方法对盆腔手术患者血浆中细胞因子变化的影响,并与传统术后镇痛法进行比较,探讨术后充分镇痛对免疫功能的影响。方法根据镇痛方法不同,将60例行子宫切除患者随机分为3组：第1组患者为术后根据临床需要,临时给予哌替啶50mg肌肉注射（Ⅰ组,n=20）;第Ⅱ组患者为罗哌卡因复合芬太尼硬膜外镇痛组（Ⅱ组,n=20）;第Ⅲ组患者为芬太尼静脉镇痛组（Ⅲ组,n=20）;观察麻醉前30min、手术后30min、2h、24h、48h和72h六个时点患者血清中白细胞介素-6（IL-6）、白细胞介素-8（IL-8）、白细胞介素-10（IL-10）水平的变化。结果3组患者术后血清IL-6、IL-8、IL-10水平与麻醉前值比较均升高（P〈0．01）,一般在术后24h达峰值。比较血清IL-6、IL-8、IL-10浓度变化,Ⅱ和Ⅲ组抑制这3种细胞因子释放的能力明显强于Ⅰ组（P〈0．05）,与Ⅲ组比较,Ⅱ组更为明显（P〈0．05）。结论硬膜外局麻药复合阿片受体激动药镇痛模式可更有效地降低术后炎性直激反应。