九种罕见的人类染色体异常核型报告

ReportonNineRareSpeciesofHumanChromosomalAbnormalKaryotypesHanWeitian;QuOu;YuPing;JiangMiao(LiaoningResearchInstituteofFamilyPlanning,Shenyang110031)自1983年以来,我们对数千例不育及胚胎丢失等生殖异常患者进行细胞遗传学研究,发现大量异常染色体核型,而且异常种类繁多,已报道世界首报人类异常核型25种[1]。最近,在不良妊娠患者中又发现9种异常核型,经湖南医科大学医学细胞遗传学国家培训中心鉴定,为世界首次报道．现报告如下。1病例摘要及核型例1男,30岁,表型及智力正常,其妻子妊娠两次,均在无任何诱因情…     

笼养蓝马鸡取食高度偏好

笼养鸟类取食高度对其自然行为表达和动物福利至关重要。然而,相关研究却少见报道。本文以我国二级重点保护野生动物——蓝马鸡(Crossoptilon auritum)为研究对象,观察笼养状态下其对不同高度取食槽内放置的种子或蔬菜的取食次序,并使用回归分析建立取食高度与偏好值的数学模型。结果发现,笼养蓝马鸡取食种子类食物(玉米粒)最佳取食高度为0cm,并且采食偏好随采食槽高度升高而下降(y=-0.564x+43.146,R²=0.946,y为采食偏好值,x为采食槽高度);油麦菜(Lactuca sativa)的最适取食高度范围为15～25 cm,随着取食槽高度的升高,偏好值先上升,至25 cm处后下降(y=-0.014x2+0.543x+26.487,R²=0.952,y为采食偏好值,x为采食槽高度)。当取食槽高度在65 cm及以上时,蓝马鸡拒食率上升(拒食率≥38.9%)。成年蓝马鸡体高对取食高度影响不明显。研究结果可为笼养蓝马鸡饲养管理提供参考。     

Morphogenesis of T-tubules in heart cells: the role of junctophilin-2

The T-tubule (TT) system forms the structural basis for excitation-contraction coupling in heart and muscle cells. The morphogenesis of the TT system is a key step in the maturation of heart cells because it does not exist in neonatal cardiomyocytes. In the present study, we quantified the morphological changes in TTs during heart cell maturation and investigated the role of junctophilin-2 (JP2), a protein known to anchor the sarcoplasmic reticulum (SR) to TT, in changes to TT morphological parameters. Analysis of confocal images showed that the transverse elements of TTs increased, while longitudinal elements decreased during the maturation of TTs. Fourier transform analysis showed that the power of ~2 m spatial components increased with cardiomyocytes maturation. These changes were preceded by increased expression of JP2, and were reversed by JP2 knockdown. These findings indicate that JP2 is required for the morphogenesis of TTs during heart development.     

Secretory/releasing proteome-based identification of plasma biomarkers in HBV-associated hepatocellular carcinoma

For successful therapy, hepatocellular carcinoma (HCC) must be detected at an early stage. Herein, we used a proteomic approach to analyze the secretory/releasing proteome of HCC tissues to identify plasma biomarkers. Serum-free conditioned media (CM) were collected from primary cultures of cancerous tissues and surrounding noncancerous tissues. Proteomic analysis of the CM proteins permitted the identification of 1365 proteins. The enriched molecular functions and biological processes of the CM proteins, such as hydrolase activity and catabolic processes, were consistent with the liver being the most important metabolic organ. Moreover, 19% of the proteins were characterized as extracellular or membrane-bound. For validation, secretory proteins involved in transforming growth factor-β signaling pathways were validated in plasma samples. Alphafetoprotein (AFP), metalloproteinase (MMP)1, osteopontin (OPN), and pregnancy-specific beta-1-glycoprotein (PSG)9 were significantly increased in HCC patients. The overall performance of MMP1 and OPN in the diagnosis of HCC remained greater than that of AFP. In addition, this study represents the first report of MMP1 as a biomarker with a higher sensitivity and specificity than AFP. Thus, this study provides a valuable resource of the HCC secretome with the potential to investigate serological biomarkers. MMP1 and OPN could be used as novel biomarkers for the early detection of HCC and to improve the sensitivity of biomarkers compared with AFP.     

汉、回、蒙古族拇指类型、环食指长、扣手、交叉臂及惯用手的研究

作者于1996年在内蒙古调查了汉、回、蒙古族5项人类遗传学经典指标(拇指类型、环食指长、扣手、交叉臂、惯用手)。研究结果显示:(1)3个民族间拇指类型、扣手出现率存在显著性差异,交叉臂、惯用手出现率则无显著性差异,环食指长出现率蒙-汉、蒙-回间存在显著性差异;(2)拇指类型、扣手、惯用手出现率无性别间差异,环食指长出现率男女间存在显著性差异;(3)惯用手与扣手、惯用手与交叉臂间存在明显的相互关系,交叉臂与扣手之间则无关;(4)与国外人群比较,3个民族环指长出现率高,交叉臂R型出现率较高,扣手R型出现率较低,惯用手L型出现率高于印度的一些群体。 Abstract:Authors in vestigated 5 general indexes of anthrotogical genetics including pollical type,palmar digital formula,hand clasping,arm folding and handedness in Han,Hui and Mongol nationalities in 1996.The results showed as follows:(1)There were significant differences in the frequency of pollical type and hand clasping in 3 nationalities,but those of arm folding and handedness showed nosignificant difference and the frequencies of palmar digital formula between the Mongol and the Hui revealed significant difference.(2)There were no significant sexual difference in the frequency of pollical type,hand clasping and handedness while the long type (R) of ring finger revealed significant sexual difference.(3)There were obvious correlations between handedness and hand clasping,handedness and arm folding but no relation between arm folding and hand clasping.(4)In comparison with foreign ethnic groups,the 3 nationalities showed higher frequencies of long type (R) of ring finger and right-arm folding but the frequence right-hand clasping revealed slightly lower.The findings showed higher frequence of Left-Handedness than that of Indian population.     

除虫菊内生镰孢菌Y2发酵条件优化及其抑菌活性

从除虫菊叶中筛选到1株内生真菌Fusarium sp．Y2,对其进行了基础培养基的筛选及培养条件优化研究。结果表明,Y2菌株的较佳发酵培养基为：每L培养基中含有麦芽糖10g、蛋白胨6g、KH2PO42g、KCl 1g、FeSO40．02g、MgSO4·7H2O1g;较佳发酵条件为：初始pH8．5,250mL三角瓶装液100mL,摇床转速180r／min,培养温度28．0℃,接种量21％。在此条件下与原始发酵条件相比,Y2菌株发酵液对番茄灰霉病菌菌丝生长抑制率达98．6％,提高了6．8％;对其孢子萌发抑制率达95．4％,提高了16．1％;其茵丝生长量（干质量）达8．975mg／mL,增加了7．8％。     

Quantitative Trait Loci Mapping of Leaf Morphological Traits and Chlorophyll Content in Cultivated Tetraploid Cotton

Genetic mapping provides a powerful tool for quantitative trait loci （QTL） analysis at the molecular level. A simple sequence repeat （SSR） genetic map containing 590 markers and a BCI population from two cultivated tetraploid cotton （Gossypium hirsutum L.） cultivars, namely TM-1 and Hai 7124 （G. barbadense L.）, were used to map and analyze QTL using the composite interval mapping （CIM） method. Thirty one QTLs, 10 for lobe length, 13 for lobe width, six for lobe angle, and two for leaf chlorophyll content, were detected on 15 chromosomes or linkage groups at logarithm of odds （LOD）≥2.0, of which 15 were found for leaf morphology at LOD≥3.0. The genetic effects of the QTL were estimated. These results are fundamental for marker-assisted selection （MAS） of these traits in tetraploid cotton breeding.     

Mapping of a Wheat Resistance Gene to Yellow Mosaic Disease by Amplified Fragment Length Polymorphism and Simple Sequence Repeat Markers

Wheat （Triticum aestivum L.） yellow mosaic virus （WYMV） is transmitted by a fungal vector through soil and causes serious wheat yield losses due to yellow mosaic disease, with yellow-streaked leaves and stunted plants. In the present study, the amplified fragment length polymorphisms （AFLP） and simple sequence repeat （SSR） were used to identify the molecular linkages with the resistance gene against WYMV. Bulked segregant analysis was performed with an F2 population derived from the cross of cultivar Ningmai 9 （resistant） × cultivar Yangmai 10 （susceptible）. By screening among the resistant or susceptible parents, the F2 pools and the individuals in the F2 population with 64 combined selective AFLP primers （EcoRI/MseI） or 290 reported SSR primers, a polymorphic DNA segment （approximately 120 bp） was amplified using the primer pair E2/M5, and an SSR marker （approximately 180 bp） was located on wheat chromosome 2A using the primer Xgwm328. Analysis with MAPMAKER/Exp Version 3.0b （Whitehead institute for Biomedical Research, Cambridge, MA, USA） indicated that these two markers were dominantly associated with the resistance gene at distances of 5.4 cM or 17.6 cM, respectively. The resistance gene to WYMV derived from Ningmai 9, is temporarily named YmNM, and was mapped to wheat chromosome 2A.     

Chromatography studies on bio-affinity of nine ligands of a1-adrenoceptor to a1D subtypes overexpressed in cell membrane

Copyright by Science in China Press 2004 The a1-AR is present in many tissues including heart, blood vessels, liver, brain, kidney, prostate and spleen. In these tissues, the a1-AR mediates a variety of physiological effects such as neurotransmission, vasoconstriction, cardiacinotropy, chronotropy and glycogenolysis[1]. In 1986, Morrow and Greese pro-posed that a1-AR should be subclassified into two subtypes. Later this hypothesis was proved by Q.D Han in 1987. He not only verified a1-A…     

两例事故受照者染色体畸变分析及生物剂量估算

应用外周血淋巴细胞染色体畸变和CB微核分析方法,对2000年河南许昌“3.06”60Co辐射事故1例受照者(A)和2000年河南开封“6.26”辐射事故一例过量放射性核素内污染致γ射线照射受照者(B)的生物剂量进行估算。结果表明,“A”和“B”两例受照者依据双+环率估算的剂量分别为1.44Gy和0.15Gy,CB微核率估算的剂量分别为1.43Gy和0.22Gy,与用物理方法估算的剂量比较接近,亦与放射损伤的临床诊断一致。泊松分布检验证实,“A”偏离泊松分布,受到不均匀照射。提示染色体畸变和CB微核分析是非常可靠的生物计量估算方法。 Abstract:Biological doses were estimated by using the yields of dicentrics plus rings(dic+r) and cytokinesis-block micronuclei (CBMN) for two victims of the accident radiation occurred on Mar 6,2000 in the City of Xuchang(victim A),and Jun 26,2000 in the City of Kaifeng(victim B),Henan Province,respectively.The results indicated that the equvalent whole body doses based on the standard dose-response curves established by the analyses of dic+r and CBMN were estimated to be 1.44Gy and 1.43Gy(victim A),and 0.15Gy and 0.22Gy(victim B).These doses were very consistent with the mean doses calculated from physical measurement and conformable to the clinical dianosis.The dic+r aberrations of victim A did not accord with Poisson distribution.The analyses of chromosomal aberrations and CBMN are an extremely reliable method in biological dosimetry.The radiation which victim A was exposed to was heterogeneous.