A rare inherited euchromatic heteromorphism on chromosome 1

Extra genetic material that is euchromatic is generally regarded to be associated with phenotypic abnormalities. However, recent studies suggest that this is not always the case. Chromosome analysis was performed on amniotic fluid cells from a 37-year-old phenotypi-cally normal patient referred for advanced maternal age. All the cells analysed showed a karyotype of 46, XY, 1p-K The 1p+ chromosome had extra genetic material of uncertain origin in chromosome band region 1p21 →31. Chromosome analysis on the father revealed a normal 46, XY male karyotype. The mother's karyotype showed the same 1p+ chromosome. C and Q banding, as well as silver staining studies, in both the mother and the fetus support the interpretation that the extra chromosomal material was euchromatic in nature. This 1p + chromosome may be characterized as a euchromatic heteromorphism. Euchromatic hetero-morphisms not associated with phenotypic abnormalities have been reported for chromosomes 9 and 16. To the best of our knowledge, this is the first report involving this type of cytogenetic anomaly on chromosome number 1 in a phenotypically normal mother and infant.     

长江中下游地区旱涝急转的阈值诊断及危险性评估

选择与长江中下游地区夏季旱涝异常有关的15项大气环流指数作为自变量,以旱涝急转指数为因变量,采用非线性非参数的分类与回归树方法(CART)预测旱涝急转成灾的危险性等级。CART不仅能够提取出主要致灾因子,同时可以诊断不同影响阈值条件下,旱涝异常的类型及危险性等级。研究结果显示,夏季和春季北极涛动指数、春季亚洲径向环流指数,以及春季亚洲区极涡面积指数4项指标是旱涝突变成灾的主要影响因子,对旱涝急转成灾的危险程度具有很好的表征作用。当夏季北极涛动指数大于1.11时,更容易发生涝转旱事件(危险性等级为1级),而当夏季北极涛动指数小于或等于1.11,同时春季北极涛动指数大于或等于-1.11时,更容易发生旱转涝事件(危险性等级为6级),其他危险性等级的条件也可从模型中直接判读出来。采用2011~2013年的实测数据和模型预测结果进行对比,两者非常接近,验证了模型的可靠性。采用的CART方法为长江中下游地区旱涝急转致灾的等级预测提供了一种新的思路。     

基于FMEA与RBF神经网络的LPG汽车罐车储罐系统故障诊断

为了对液化石油气(LPG)公路运输罐车储罐系统故障进行准确、全面的诊断,通过利用故障模式影响分析方法(FMEA)构建储罐系统故障模式及故障特征指标,根据日常检测数据构造训练样本,运用径向基函数(RBF)神经网络对网络进行训练建立诊断模型并利用诊断模型对罐车故障进行诊断。经验证:诊断结果与实际情况相符合。因此,基于FMEA与RBF神经网络所构建的模型可以用于危险化学品汽车罐车储罐系统的故障诊断。     

宁波市常见藻华的现场快速诊断

为了建立宁波市常见水华现场快速判断方法,根据宁波市常见水华的表观特征以及在叶绿素荧光仪上的响应,确定可能的水华优势种类,从而达到现场快速判断的目的。进一步结合实验室得出的水华藻影响因子和毒性等相关参数,得出水华的程度、可能的变化趋势和水源的安全性。结合水文、气象等其他影响因子,及时更新宁波市藻华数据库和检索表,可得出较为科学的判断结果。     

Rapid prenatal diagnosis of Duchenne muscular dystrophy with gene duplications by ion-pair reversed-phase high-performance liquid chromatography coupled with competitive multiplex polymerase chain reaction strategy

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by various mutations in the dystrophin gene. Rapid prenatal diagnosis of DMD with gene duplications is difficult due to limitation in gene dosage determination and the requirement for a known disease-causing mutation in the pedigree to achieve a rapid and accurate diagnosis. We report, here, a case with rapid prenatal diagnosis of DMD-affected male with gene duplications in the absence of a known disease-causing variation in the pedigree by using ion-pair reversed-phase high-performance liquid chromatography (IP-RP-HPLC) coupled with competitive multiplex polymerase chain reaction (PCR) protocol. In cases with clinical diagnosis of DMD/BMD, this test should identify greater than 92% of disease-causing DNA variants. The postnatal genetic diagnosis of this case and the same disease-causing mutations subsequently identified in other members of the pedigree confirmed the accuracy of competitive multiplex PCR/IP-RP-HPLC assay in direct prenatal diagnosis of DMD. Copyright © 2007 John Wiley & Sons, Ltd.