Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency—misdiagnosis by direct sequence analysis using a PCR product

Molecular diagnostic tests are becoming a routine analysis in many laboratories. These modern analyses are widely used in clinical medicine, forensic, genetic and prenatal diagnosis and also in preimplantation genetic diagnosis. The accuracy of analysis is highly dependent on the success achieved in minimising genotyping errors. The pitfalls in molecular diagnostic tests can be due to a simple technique such as the polymerase chain reaction (PCR) used universally. This technique is routinely used for its apparent accuracy, but it is also a well-known source of errors. We report an error introduced during PCR reaction that leads to a wrong sequence result and consequently to a ‘false’ molecular result in a next prenatal diagnosis in a family with severe factor VII (FVII) deficiency. This error was verified using an unsuitable primer design in a rich repetitive sequence of the FVII gene that leads to a false annealing and then to a wrong molecular diagnosis. It is essential to link closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive results, which is of great importance to diagnosis and molecular prevention. Copyright © 2003 John Wiley & Sons, Ltd.     

Inhibitory effects of red algal extracts on larval settlement of the barnacle Balanus improvisus

We examined the chemical antifouling properties of four sublittoral red algae, Chondrus crispus, Delesseria sanguinea, Osmundea ramosissima, and Polyides rotundus, which are all rarely fouled in the field. Two different approaches were used. Firstly, we tested the effects of lipophilic crude extracts on the settlement behaviour of cyprid larvae of the co-existing barnacle Balanus improvisus. Secondly, in a settlement preference experiment, we tested whether B. improvisus cyprid larvae settle on living algae when given a choice between natural algal surfaces and control surfaces. With this procedure, we were able to test both if the algae inhibit recruitment of cyprids, and if this inhibition is a result of chemistry. The settlement of B. improvisus larvae was strongly inhibited at concentrations estimated to be potentially ecologically relevant for all of the tested extracts. However, only C. crispus significantly inhibited settlement in the preference experiment, even though there was also a tendency for settlement inhibition on P. rotundus and O. ramosissima. In contrast, D. sanguinea seemed to stimulate settlement. This contradiction probably resulted from an extraction of metabolites that naturally occur only inside the alga. However, as this study shows, a combination of settlement assays with whole-cell extracts and preference tests of ecologically relevant fouling organisms on natural algal and control surfaces may be a useful procedure to avoid erroneous conclusions regarding natural antifouling roles of compounds based on settlement assays with only whole-cell extracts. Furthermore, this study also shows that production of inhibitory metabolites may explain the low degree of fouling, especially by B. improvisus, on C. crispus.Communicated by L. Hagerman, Helsingør     

加拉帕戈斯群岛移民和海参危机实例研究

加拉帕戈斯海参捕捞危机是由于大量的移民涌入、激烈的经济竞争以及软弱无力的管理机构所造成的一个典型例子.短时期内,海参捕捞已经成为加拉帕戈斯地区最有煽动性的争议问题.就对新的海洋资源进行高效捕捞来说关键因素并不是渔民本身,而是新的捕捞技术、银行贷款和水产市场.这说明造成每年海参捕捞危机的原因非常复杂而不仅仅因为不断增多的渔民加大了海参的捕捞量.本文通过人口普查数据和渔民注册登记数据分析了该群岛人口的增长情况.还通过一项民意调查来确定人们对海参捕捞和有关规定的态度.定性的采访揭示了海参繁荣的历史,同时海参监测信息也提供了年海参捕捞量的估计值.