Genetic screening for cystic fibrosis

More than 98% of mutations causing cystic fibrosis can be detected in a Celtic population in Brittany, France. What, though, are the prospects for screening of entire populations for carriers?... Even if technology improves to the point where 95% of CF mutations can be detected routinely, and population screening becomes feasible, a more contentious matter is that of counselling and education, especially as there is every reason to believe that the lifespan of CF patients will continue to grow as therapies improve....     

细胞膜淀粉酶的纯化和分析(英文)

一种Ruminobacteramylophilus70细胞膜联的新支连淀粉酶被4%TritonX 100提取.其新支连淀粉酶活性存在于70%的硫酸铵沉淀组分中.通过等电聚焦纯化,根据SDS凝胶电泳测定,其新支连淀粉酶的分子量是91 2kDa,其等电点是5 8～5 9.根据另一种淀粉酶活性凝胶电泳的方法测定,其新支连淀粉酶的分子量大约是92 6kDa.在R.amylophilus70细胞中存在着两种类型的淀粉酶(可溶性淀粉酶和膜联淀粉酶,比如新支连淀粉酶)共同承担分解淀粉的作用.     

中国竹类上的小花口壳属（Anthostomella Sacc．）记述

在1998－2000年期间在中国香港和云南省昆明市共发现了11种小花口壳属种类：风梨小花口壳（Anthostomerlla bromeliaceae)，文菜小花口壳(A.bruneiensis)，南非小花口壳（A.cffraiae)，致病小花口壳（A.contaninans），被毛小花口壳（A.flagellariae)，异型小花口壳（A.irregularispora)，长孢小花口壳（A.longa），棕竹小花口壳（A.raphiae)，瑞氏小花口壳（A.rehmii)，竹生小花口壳（A.sepelibilis）和单列小花口壳（A.uniseriata）。其中有3种为香港新记录种：凤梨小花口壳（Anthostomella bromeliaceae)，文菜小花口壳（A.bruneiensis)，南非小花口壳（A.caffraiae）。     

T-cell recognition of chemicals, protein allergens and drugs: towards the development of in vitro assays

Chemicals can elicit T-cell-mediated diseases such as allergic contact dermatitis and adverse drug reactions. Therefore, testing of chemicals, drugs and protein allergens for hazard identification and risk assessment is essential in regulatory toxicology. The seventh amendment of the EU Cosmetics Directive now prohibits the testing of cosmetic ingredients in mice, guinea pigs and other animal species to assess their sensitizing potential. In addition, the EU Chemicals Directive REACh requires the retesting of more than 30,000 chemicals for different toxicological endpoints, including sensitization, requiring vast numbers of animals. Therefore, alternative methods are urgently needed to eventually replace animal testing. Here, we summarize the outcome of an expert meeting in Rome on 7 November 2009 on the development of T-cell-based in vitro assays as tools in immunotoxicology to identify hazardous chemicals and drugs. In addition, we provide an overview of the development of the field over the last two decades.     

Sexual reproduction in the Candida clade: cryptic cycles, diverse mechanisms, and alternative functions

To have sex, or not to have sex, is a question posed by many microorganisms. In favor of a sexual lifestyle is the associated rearrangement of genetic material that confers potential fitness advantages, including resistance to antimicrobial agents. The asexual lifestyle also has benefits, as it preserves complex combinations of genes that may be optimal for pathogenesis. For this reason, it was thought that several pathogenic fungi favored strictly asexual modes of reproduction. Recent approaches using genome sequencing, population analysis, and experimental techniques have now revised this simplistic picture. It is now apparent that many pathogenic fungi have retained the ability to undergo sexual reproduction, although reproduction is primarily clonal in origin. In this review, we highlight the current understanding of sexual programs in the Candida clade of species. We also examine evidence that sexual-related processes can be used for functions in addition to mating and recombination in these organisms.     

Conceptual Barriers to Progress Within Evolutionary Biology

In spite of its success, Neo-Darwinism is faced with major conceptual barriers to further progress, deriving directly from its metaphysical foundations. Most importantly, neo-Darwinism fails to recognize a fundamental cause of evolutionary change, “niche construction”. This failure restricts the generality of evolutionary theory, and introduces inaccuracies. It also hinders the integration of evolutionary biology with neighbouring disciplines, including ecosystem ecology, developmental biology, and the human sciences. Ecology is forced to become a divided discipline, developmental biology is stubbornly difficult to reconcile with evolutionary theory, and the majority of biologists and social scientists are still unhappy with evolutionary accounts of human behaviour. The incorporation of niche construction as both a cause and a product of evolution removes these disciplinary boundaries while greatly generalizing the explanatory power of evolutionary theory.

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.