Inherited disorders of protein glycosylation

Protein N-glycosylation is a widely occurring and vital posttranslational modification in mammalian cells. Although the molecular machinery that is involved in the biosynthesis of these glycoconjugates has been largely identified, the recent discovery of a family of rare inborn diseases in which glycoproteins are abnormally glycosylated has both changed some of our ideas concerning glycoprotein biosynthesis, and given us new insights into this complex process. Advances in the diagnosis of the congenital disorders of glycosylation are well under way and mutations in several of the genes involved in the biosynthesis and maturation of N-linked glycans have been shown to underlie these diseases. By contrast, the chain of events that lead from faulty protein glycosylation to the often severe clinical presentation is an as yet unexplored aspect of these metabolic disorders, and represents a challenge for the future.     

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

Many sequence variants in predisposition genes are of uncertain clinical significance, and classification of these variants into high- or low-risk categories is an important problem in clinical genetics. Classification of such variants can be performed by direct epidemiological observations, including cosegregation with disease in families and degree of family history of the disease, or by indirect measures, including amino acid conservation, severity of amino acid change, and evidence from functional assays. In this study, we have developed an approach to the synthesis of such evidence in a multifactorial likelihood-ratio model. We applied this model to the analysis of three unclassified variants in BRCA1 and three in BRCA2. The evidence strongly suggests that two variants (C1787S in BRCA1 and D2723H in BRCA2) are deleterious, three (R841W in BRCA1 and Y42C and P655R in BRCA2) are neutral, and one (R1699Q in BRCA1) remains of uncertain significance. These results provide a demonstration of the utility of the model.     

A general class of correlation coefficients for the 2 x 2 crossover design

The Pearson correlation coefficient and the Kendall correlation coefficient are two popular statistics for assessing the correlation between two variables in a bivariate sample. We indicate how both of these statistics are special cases of a general class of correlation statistics that is parameterized by gamma element of [0, 1]. The Pearson correlation coefficient is characterized by gamma = 1 and the Kendall correlation coefficient by gamma = 0, so they yield the upper and lower extremes of the class, respectively. The correlation coefficient characterized by gamma = 0.5 is of special interest because it only requires that first-order moments exist for the underlying bivariate distribution, whereas the Pearson correlation coefficient requires that second-order moments exist. We derive the asymptotic theory for the general class of sample correlation coefficients and then describe the use of this class of correlation statistics within the 2 x 2 crossover design. We illustrate the methodology using data from the CLIC trial of the Childhood Asthma Research and Education (CARE) Network.     

中国科学家在植物细胞骨架研究领域取得突破性进展

微管是细胞骨架的重要组成部分,为真核细胞生命活动所必需。与其它生物体类似,微管不仅在植物生长发育中起重要作用,而且参与响应外界环境信号。近期,中国科学家在解析植物微管精准切割及微管骨架动态重构调控机制的研究中取得突破性进展。     

电场对红火蚁工蚁聚集的影响

为了研究电刺激对红火蚁聚集的影响,本研究通过改变电压、电线裸露程度及电线间距,测定了在不同电场强度下红火蚁工蚁的聚集程度和行为反应。结果表明在不同电压(1.5 V、3 V、6 V)、两根裸露电线不同间距(2 mm、4 mm)条件下,电压6 V、电线间距为2 mm时对红火蚁的吸引效果最强,电线上聚集工蚁最多达59.2头;强电场(电压36 V,电线间距分别为2 mm、4 mm)条件下,电压36 V、电线间距2 mm时电线上聚集工蚁最多达75头;另外,电线裸露程度也显著影响电场对红火蚁的吸引作用。在模拟设备电压(36 V)条件下红火蚁接受电刺激后产生明显的行为反应,表现为身体不断颤抖,在电线周围继续寻找电刺激。     

小鼠胚胎组织、成体组织和胚胎癌细胞酯酶同功酶谱的比较研究

本文比较了129品系小鼠几种胚胎组织及其相应的成体组织的酯酶同功酶谱。几种胚胎组织都可检测到共同的具有相同迁移率的C区酶带和E区酶带。在这些胚胎组织的功能发育过程中,C区酶带被其它区带所取代;E区酶带在成体组织中有的活性降低,有的完全消失。从这些比较分析中可以观察到酯酶同功酶从“胚胎型”向“成体型”的转变。与这些结果相对应,F9-1和B7-2胚胎癌细胞克隆株及来源于早期胚胎细胞的细胞系细胞也都具有酯酶C和E的活性。     

氟化钠对小鼠活体SCE及对孕鼠骨髓与胎鼠肝血微核的影响

随着工业生产的迅速发展,一些化肥工业、 国防工业高氟原料的大量使用,必然导致含氟 废物的增加。处理不当,则会污染环境、危害人 民健康。氟是人体内参加正常代谢不可缺少的 微量元素之一,在国民经济中起着重要作用。目 前,对氟化物是不是诱变剂,报道不多,在仅 有的报道中,有的学者认为该物质具有一定的 诱变活性^[7]。有的则相反^[6]。为了探讨与人们 生活密切相关的氟化物对当代遗传物质危害 程度的同时,进一步探讨对其子一代的遗传危 害。本室利用小鼠活体姊妹染色单体交换方法 及对妊娠小鼠及其胎鼠微核试验,从整体角度 评价了氟化钠对两代小鼠潜在性的遗传危害。     

中国生理学会血压专题学术讨论会侧记

中国生理学会血压专题学术讨论会于1988年10月11～13日在成都市举行。来自全国各省、市、自治区的80余名代表参加了会议,代表中多数是从事心血管方面研究的学者及研究生。会议期间,41名代表报道了近年来自己的工作,共宣读论文54篇,引起了与会者极大兴趣,展开了热烈的讨论。中国生理学会副秘书长邓希贤教授主持了开幕式,中国生理学会副理事长陈孟勤教授致开幕词。会议以分组讨论的形式进行。讨论内容主要集中在以下几个方面:(1)血管平滑肌生理的研究:着重讨论了血     

A DIFFERENTIAL GEOMETRIC APPROACH TO PROTEIN STRUTURE ALIGNMENT

A new method of comparing protein structures is deseribed, based on the differential-geometric representaion of protein conformation with the information of global dissimilarity and residue relatedness.The utility of this method for comparing closely and distantly related homologous proteins is demostrated by multiple alignment of globins, serine proteinases and aspartic proteinases.