人类指掌皮肤嵴纹与智力发育的相关性研究

本工作对120例遗传型智残者和60例非遗传型智残者的指、掌皮肤嵴纹数进行分析,并分别与相同例数的对照组同类资料进行比较,找出与智力发育相关的指端、指间区、指基部皮纹参数,据此将遗传型智残组按智商值的不同分为6个组,将不同智商组对应的各区嵴纹数进行分析处理。结果表明,指端皮肤嵴纹数与智商呈正相关,相关系数r＝0.8319,各指间区和指基部嵴纹数与智商值呈负相关,相关系数r＝-0.7392。 Abstract　Digital and palmar of 120 cases of hereditary mental deficiency and 60 cases of non-hereditary mental deficiency were analysed, and compared with the control group using the same cases and identical data, and then skin vein parameter interrelated with intelligence development for digital end, interdigital area, digital root were found. In the light of this we divided the hereditary mental deficiency group into 6 accorcding to IQ value, and analysed statistically every area ridge count corresponding to different IQ group. The result showed that ridge count of digital end was positively correlated with IQ value correlative coefficientr=0.8319; Whereas ridge count of interdigital area and digital root were negatively correlated with IQ value correlative cofficientr=0.7392.     

趾跖嵴纹数与智力发育相关性的研究

本工作对遗传型智力残疾患者和非遗传型智力残疾患者各50例的趾端、拇趾球区、小鱼际远端区、趾间区的皮肤嵴纹数进行分析,并分别与对照组的同类资料比较。遗传型智残组与对照组比较,其趾端、拇趾球区、b～cRC、c～dRC均存在着非常显著的差异,P<0.001;其小鱼际远端区、a～bRC具有显著差异,P<0.05。非遗传型智残组与对照组的比较,其趾端、拇趾球区、a～bRC、b～cRC 的差异均无显著意义,P>0.05;小鱼际远端区、c～dRC具显著差异,P<0.05。这些结果表明,小鱼际远端区皮肤嵴纹数在诊断智残患者中有一定参考价值,趾端、拇趾球区、各趾间区的皮肤嵴纹数在智残患者的诊断中以及遗传型与非遗传型智残患者的鉴别方面都有一定的参考价值。 Abstract： Total Ridge Count of toe,hallucis area,hypothenar distal and interdigitorum of each 50 cases of hereditary and nonhereditary mental deficiency groups were analysed,and compared with those of the control groups respectively.TRC of toe,hallycis area,b～c and c～d of hereditary mental deficiency groups,compared with those of the control groups,had great significent difference (P<0.001)and TRC of hypothenar distal and a～b had significent difference (P<0.05).Non－ hereditary mentale deficiency was compared with the control group;TRC of toe,hallycis area,a～band b～c had no significent difference (P>0.05);TRC of hypothenar distal and c～d had significent difference (P<0.05).The results showed that TRC of hypothenar distal had reference value to diagnose mental deficiency,and TRC of toe,hallucis area and each interdigitorum had a certain reference value to diagnose mental deficiency and distinguish between hereditary and non－hereditary mental deficiency.     

有利基因和有利的基因互作能够提高籼粳杂种育性

利用一套籼粳交ＤＨ系与两份具有广亲和性的水稻光（温）敏核不育系测交,构建两个测交Ｆ１群体,同时用９２个多型性的ＲＦＬＰ标记分析了杂交亲本和另外３０个不同类型的籼、粳品种（对照组）的基因型。利用对照组籼或粳表型与分子标记的关联性,检测出４１个与籼粳分化高度相关的ＲＦＬＰ标记。结果表明,８７．８％的这种标记参与了对杂种优势显著或极显著的影响,表明在水稻的演化过程中,参与适应性进化的基因与控制经济产量的     

不同温度条件下水稻种子活力QTL的定位分析

为了揭示基因型与环境温度之间的互作对种子活力的影响,利用1个粳籼交来源的重组自交系群体,采用纸卷法在15、20和25℃条件下进行发芽试验,考察了发芽率、芽长、根长及干重等4个种子活力相关性状。结合一张含有198个DNA标记的连锁图谱,用作图软件QTL Mapper1.0定位与种子活力相关的QTL。共检测到34个主效应QTL。这些QTL中的绝大多数(82％)成簇分布于第3、5和8号染色体的5个不同染色体区段上,分别被命名为QTL qSV-3-1、qSV-3-2、qSV-5、qSV-8-1和qSV-8-2。其中,QTL qSV-3-1、qSV-3-2和qSV-8-1对种子活力的效应大小和方向在3个温度条件下均较一致;而QTL qSV-5和qSV-8-2主要在20和25℃条件下起作用,在15℃低温条件下作用甚微或不起作用。表明种子活力QTL具有显著的基因型与环境温度之间的互作,而且这种互作具有明显的QTL特异性。芽长是唯一同时受5个与种子活力高度相关的染色体区段共同影响的指标,因此,相对而言,作为水稻种子活力的测定指标,芽长是最具有代表性的。     

基于蛋白质互作网络挖掘自闭症谱系障碍的功能模块与核心基因

自闭症谱系障碍(autism spectrum disorder, ASD)是一种具有高遗传性、临床异质性和生物复杂性的神经行为障碍类疾病。为挖掘ASD发生发展过程中的功能模块与核心基因,本文从自闭症谱系障碍疾病数据库获取ASD相关基因;利用STRING数据库构建ASD相关基因的蛋白质互作网络;通过MCODE算法对蛋白质互作网络进行模块分析并筛选核心基因;最后对各功能模块进行KEGG通路分析,根据富集到的通路类别评估功能模块之间的相互作用。结果显示, 3个疾病基因数据库筛选出182个共有基因,构建的蛋白质互作网络包含171个节点和1 041条边,其中NRXN1、GRIN2B、GRIN2A、DLG4、NLGN3、MECP2、CNTNAP2、BDNF、NLGN4X、FMR1等23个基因具有较高的连通度(degree)。从蛋白质互作网络中分析得到5个功能模块,包括68个核心基因。KEGG富集分析发现功能模块参与多个生物学通路,包括细胞黏附分子、钙离子通路、神经活性的配体-受体相互作用、多巴胺能神经突触等。分析结果提示,挖掘的ASD功能模块和核心基因大多集中在神经元活动、信号分子和信号传导等,且各模块相互作用共同影响ASD的发生发展。     

APP基因启动子区甲基化与冠心病相关性的研究

为了探讨淀粉样前体蛋白(amyloid precursor protein, APP)基因甲基化与冠状动脉粥样硬化性心脏病(coronary heart disease, CHD)之间的关系,采用甲基化特异性实时定量聚合酶链反应(quantitative methylation-specific PCR, qMSP)检测538名CHD患者及453名正常对照者的APP甲基化修饰水平。结果显示:CHD组的年龄、男性人数、吸烟及糖尿病患者人数均高于对照组(年龄, P=8.0E-08;男性人数, P=7.0E-07;吸烟, P=0.001;糖尿病,P=0.019)。CHD组患者白蛋白水平显著低于对照组(P=0.001),而AST、ALP及γ-GT的水平在CHD组中显著高于对照组(AST, P=3.0E-04; ALP, P=0.001;γ-GT, P=0.018)。在总体样本及男性样本中, APP基因甲基化水平在CHD组显著高于对照组(总体, P=0.026;男性, P=0.025)。在非吸烟CHD患者中, APP基因甲基化水平与狭窄程度呈正比(r=0.076, P=0.046)。在总体CHD伴高血压患者及男性CHD伴高血压患者中, APP基因甲基化水平和狭窄程度呈正比(总体, r=0.096, P=0.029;男性, r=0.135, P=0.019)。年龄分层分析后发现,在年龄≥63岁的男性CHD伴高血压患者中, APP基因甲基化水平与狭窄程度呈正比(r=0.219, P=0.020)。在年龄63岁的不吸烟或非高血压CHD患者中, APP基因甲基化水平与狭窄程度呈负相关(不吸烟, r=-0.223, P=0.008;非高血压,r=-0.216, P=0.010)。在男性CHD患者中, APP基因甲基化水平与年龄呈正相关(r=0.163, P=0.001)。在女性CHD患者中, APP基因甲基化水平与年龄呈负相关(r=-0.192, P=0.015)。在男性正常对照组中, APP基因甲基化水平与年龄呈负相关(r=-0.203, P=0.001)。在女性正常对照组中, APP基因甲基化水平与ApoB、白蛋白及ALT水平呈负相关(r=-0.160, P=0.028; r=-0.151, P=0.036; r=-0.163, P=0.024)。在正常对照组中, APP基因甲基化水平与Lp(a)水平呈正相关(r=0.108, P=0.031)。以上结果初步表明APP基因甲基化水平增高可能和男性CHD患病风险有关。     

水稻PKC蛋白Os07g48290与CATs的互作及表达模式分析

过氧化氢酶(catalase,CAT)能有效消除或减轻氧化损伤,其酶活性受磷酸化修饰调控。现运用PCR技术从水稻中克隆了一个与蛋白激酶Cδ(protein kinase Cδ,PKCδ)同源的Os07g48290基因。亚细胞定位分析发现Os07g48290主要定位在细胞膜上。酵母双杂交实验发现,Os07g48290能与CATs(CatA、CatB和CatC)相互作用,其中Os07g48290-CatC间的互作更强。双分子荧光互补(bimolecular fluorescence complementation,BiFC)与共定位实验进一步证实了Os07g48290与CATs的互作,并且其互作场所均位于细胞膜上。此外,Os07g48290和CATs的表达模式分析发现,Os07g48290和CATs主要在叶片中表达,而且其转录表达受NaCl与H_2O_2胁迫处理的诱导。总之,实验结果提示Os07g48290与CATs间可能存在磷酸化的互作形式,并以这种方式参与了水稻的盐及氧化胁迫的响应。     

植物与病原真菌互作的形态变化及其生理、生化机制和基因调控

本文从生理、生化、酶学及基因调控等方面对植物与病原真菌互作过程中的形态变化进行了综述,以期为植物抗病方面的研究提供参考     

人类血小板抗原1～6系统同步基因分型的研究

为研究采用PCR—SSP技术,建立可靠的人类血小板抗原HPA-1,2,3,4,5,6系统的同步基因分型方法,并以所建立的方法研究血小板抗原。设计合成18条序列特异性引物,探索最佳退火温度,通过调整引物浓度、Mg2＋离子浓度,使HPA-1~6系统等位基因在同一条件下进行同步扩增和扩增产物在同一凝胶中进行同步电泳。引物的特异性和灵敏度采用基因型已知的质控DNA进行验证。应用此方法,对2000年度国际输血协会（ISBT）第十届血小板基因定型与血清学工作组送检的15份考核样本（其中血样2份,DNA样本13份）进行了基因分型。用此方法检测质控DNA,结果与已知的HPA基因型完全相符;15份第十届血小板基因定型与血清学工作组的考核样本的检测结果,与ISBT公布的结果完全相同,准确率达100%。Abstract: To set up the simultaneous genotyping of human platelet antigens of 1,2,3,4,5,6 system by PCR—SSP assay and use the genotyping method for the study of platelet antigens. In this study, 18 sequence-specific primers were designed and synthesized. The annealing temperature for all sequence-specific primer pair, the concentration of each primer pair and the concentration of Mg2+ were adjusted to the optimum so that HPA-1 to 6 systems could be amplified simultaneously under the same PCR cycling parameters. The electrophoresis of PCR products was conducted simultaneously on the same agarose gel. Control DNA samples that genotypes known were used to confirm the sensitivity and specificity of each sequence-specific primer. 15 coded samples (including 2 blood samples and 13 DNA samples) distributed by 10TH Platelet Genotyping and Serology Workshop of the International Society of Blood Transfusion (ISBT) were typed for HPA-1 to 6 systems by this method. A concordance rate of 100 percent was observed between the results of control DNA samples typed by our PCR—SSP assay and the data of known specificity of control DNA. The results of 15 coded samples tested by our method agreed well with the results provided by ISBT report.     

水稻耐淹涝性状的遗传分析和SSR标记的研究

淹涝胁迫对水稻生产造成了严重影响, 发掘可应用于耐淹涝辅助选择的分子标记(MAS), 将有助于水稻耐淹涝性状的遗传改良。应用耐淹涝材料FR13A和淹涝敏感材料IR39595-503-2-1-2为亲本做正反交获得F₁和F₂代群体。对正反交的F₁群体的耐淹涝性状进行遗传分析, 发现正反交的F₁代群体在耐淹涝性状上没有显著差异, 说明耐淹涝性状是核基因控制。从两次淹涝处理中F₂代群体的分离情况来看, 来源于FR13A的耐淹特性表现出数量-质量性状遗传的特点。当淹涝胁迫压力比较轻时表现为数量性状遗传, 具有微效多基因的作用。当淹涝胁迫压力增大时, 表现为主效基因控制的质量性状。在SSR分析中, 187对SSR引物中有73对引物在两亲本间有明显的差异, 差异率为39%。用这73对差异引物, 对F2群体进行多态筛选, 结果筛选到一个与耐淹涝性状连锁的标记RM219, 验证了耐淹涝性状确实由主效基因Sub1控制, 因此, RM219在水稻耐淹涝育种中具有利用价值。     

中国菰资源研究现状及应用前景

中国菰(Zizania latifolia(Griseb.)Turcz.ex Stapf)是一种多年生禾本科稻亚科稻族菰属挺水植物。研究表明,菰具有现代水稻栽培品种所需要的许多优良性状,在生态治理方面表现出应用潜力;菰米营养价值高于普通稻米,且兼具保健功效。菰的这些特性使其在水稻种质改良、重金属离子污染土壤治理以及功能性食品开发方面表现出诱人的前景。近年来,菰属植物的研究工作取得了一定的进展,主要涉及菰的起源进化、菰的经济价值、菰与生态环境的关系、菰遗传多样性分析、菰组学及育种应用等五方面。因文献报道的时间跨度大,涉及面广,目前未见详尽的有关该物种研究进展的专门论述。本文从上述5个方面进行总结,促进对菰的了解,为这种重要野生资源的研究、保护和开发利用提供借鉴,进而加速该物种的研究进程。     

Analyzing quantitative trait loci for yield using a vegetatively replicated F2 population from a cross between the parents of an elite rice hybrid

Although F₂s are the most informative populations for genetic analysis, it has been difficult to use F₂ populations directly for QTL analysis because it is usually difficult to assess the reliability of the data, due to an inability to estimate the experimental errors. In this study, we performed a QTL analysis for yield and yield-component traits of an F₂ population based on data from replicated field trials over 2 years using vegetative shoots of ratooned plants, making use of the ratooning habit of rice. The objective of this study was to explore the possibility of conducting QTL analyses directly based on an F₂ population by means of ratooning plants. The experimental population was from a cross between ’Zhenshan 97’ and ’Minghui 63’, the parents of ’Shanyou 63’, an elite rice hybrid widely grown in China. A genetic linkage map containing 151 molecular markers was constructed for QTL mapping. A total of 20 distinct QTLs were detected; eight of these were detected in both years and remaining 12 in only 1 year. Compared with the results of our previous analysis of the F_2:3 families from the same cross, it was shown that most of the QTLs detected in the ratooned F₂ population were also detected in the F_2:3 population. However, the estimates of both additive and dominant types of genetic effects for many of the QTLs based on F₂ ratoons were substantially larger than those based on F_2:3 families. The results indicate that vegetatively ratooned F₂ populations may have considerable utility in the mapping of QTLs, especially if dominant types of gene actions are of concern, although there were certain technical limitations in making use of such populations in the experiments. Received: 11 November 1999 / Accepted: 24 November 1999     

Toward the mapping of physiological and agronomic characters on a rice function map: QTL analysis and comparison between QTLs and expressed sequence tags

We have constructed a rice function map by collating the results on quantitative trait loci (QTLs) for 23 important physiological and agronomic characters (including 13 newly measured traits) obtained using backcross inbred lines of japonica Nipponbare×indica Kasalath. Using these materials, The Rice Genome project (RGP) has developed a high-density genetic map. QTLs controlling yield did not overlap with those controlling the morphological and physiological traits supposed to relate to yield, such as photosynthetic ability. This result suggests that these traits do not influence yield, at least in this genetic background and environment. QTLs controlling yield also did not overlap with the structural genes controlling carbon metabolism (rbcS, cytosolic or plastidic fructose-1,6-bisphosphate, R-enzyme, and sucrose synthase).The combination of a function map and results from the RGP can be advantageous. The utility of this map is discussed. Received: 1 October 1999 / Accepted: 28 July 2000     

水稻逆境响应基因OsMsr15的表达分析与克隆

应用Affymetrix水稻表达芯片,分析了苗期和孕穗期的培矮64S水稻基因在高温、干旱和低温逆境处理条件下的表达模式,发现多个与逆境反应相关基因.其中,OsMsr15(Oryza sativa L.multiple stresses responsivegene 15)受高温、干旱和低温胁迫诱导,表达水平均显著上调.实时定量PCR分析结果与芯片数据基本吻合.序列分析表明,该基因无内含子,ORF(open reading frame)全长为717 bp,编码一个由238个氨基酸残基组成、具有典型C2H2结构域的锌指蛋白,推测相对分子质量约为2.46 kD,pI值约为8.90,蛋白分子的氨基端和羧基端分别存在一个推测的核定位信号B-box和EAR(ERF-associated amphiphilic repression)基序.对OsMsr15可能的启动子区域进行分析,发现多种与逆境诱导相关的调控元件.该基因编码的蛋白在不同物种中存在高度相似性,显示OsMsr15基因可能作为一个保守的耐逆基因,参与植物的多种耐逆反应过程.     

粳稻品种秋光空间诱变突变体的微卫星分析

随机选用121对分布于水稻12条染色体上的微卫星引物对经卫星搭载的水稻品种秋光突变后代(SP10)7个株系进行分子检测,结果发现突变系与亲本秋光之间存在着不同程度的多态性,多态性位点的多少随突变系与原种间差异大小而变化;多数突变系和原种相比都存在多个位点突变。实验结果表明空间诱变可使植物DNA分子多个区段内发生重复或缺失等结构性变异,其诱变机理和一般的诱变因素导致DNA少数碱基发生点突变不同。     

Improvement of rice callus regeneration in the presence of NaCl

The effects of abscisic acid (37.8 μM), polyethylene glycol (5%), proline (10 mM), tryptophan (490 μM) and indoleacetic acid (5.7 μM) on rice callus regeneration were studied at various doses of NaCl (0, 50 and 100 mM) on three month-old mature embryo-derived callus of two japonica (I Kong Pao and Aiwu) and two indica (IR 2153 and Nona Bokra) rice cultivars differing in salinity tolerance. NaCl strongly decreased the regeneration frequency of all cultivars but slightly increased the survival of regenerated plantlets. Tryptophan stimulated regeneration and increased subsequent survival rates of regenerated plantlets in all cultivars at all NaCl doses. Abscisic acid and polyethylene glycol, though not affecting the final regeneration percentages, delayed regeneration and reduced the mean number of plantlets produced per regenerating callus in all cultivars, as well as rooting ability and survival of regenerated plantlets in indica genotypes. Proline had no marked effect on regeneration, whatever the NaCl dose or cultivar, while indoleacetic acid reduced shoot regeneration and increased root regeneration. This revised version was published online in June 2006 with corrections to the Cover Date.