Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)

Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inherited mutation in the gene encoding the plasma protein transthyretin (TTR). We here report the first protocol for single-cell detection of the Met30 mutation in FAP type I and its application to PGD. A nested PCR reaction for exon 2 of the TTR gene was developed. The PCR product was then analysed by restriction enzyme analysis and SSCP allowing the detection of the point mutation. Ten clinical cycles were performed in seven couples. From the 93 metaphase II (MII) injected oocytes, 82 were normally fertilized and 78 were biopsied. A positive signal in the nested PCR reaction was obtained in 61 blastomeres, corresponding to a DNA amplification efficiency of 78.2%. No allele dropout (ADO) or contamination were detected. A biochemical pregnancy was obtained in three cases and a clinical pregnancy in one couple is actually in normal evolution. Copyright © 2001 John Wiley & Sons, Ltd.     

基于数据挖掘算法和数值模拟技术的大气污染减排效果评估

近年来,京津冀地区采取了大量污染减排措施进行大气污染治理,如何客观评估减排效果是目前大气环境领域的研究难点.为准确评估大气污染过程的减排效果,本文利用北京地区常规气象资料、国控站PM_(2.5)浓度资料,遴选了北京地区2018年3月11—14日和2013年3月14—17日两次空气污染过程,计算了大气容量系数、静稳指数,并利用KNN数据挖掘算法和WRF-Chem模式,对比分析了有无减排条件下的PM_(2.5)日均浓度.结果表明:两次空气污染过程的天气形势和局地气象条件较相似,就大气热力和动力的垂直结构来看,2018年空气污染过程比2013年空气污染过程的大气稳定性更强、边界层高度更低、环境容量更小,但PM_(2.5)峰值浓度却显著下降,平均浓度明显降低,PM_(2.5)小时浓度的增长趋势相对平缓,重污染持续时间缩短.KNN数据挖掘算法减排评估结果显示,该方法能够较好地预测PM_(2.5)日均浓度的变化趋势,2018年3月11—14日,在减排和不减排情景下PM_(2.5)日均值分别为171和229μg·m~(-3),减排使得污染过程PM_(2.5)平均浓度下降了25.3%.数值模拟结果与KNN数据分析结论吻合,进一步验证了减排措施的有效性.综合看来,2018年空气污染过程中PM_(2.5)浓度相比历史相似气象条件下的污染过程显著降低,这是长期大力度减排效果的体现.     

OBIA与RF结合的龙口市土地利用信息提取方法

为提高中分辨率遥感影像解译精度,本文提出面向对象影像分析（Object Based Image Analysis,OBIA）与随机森林（Random Forest,RF）结合的土地利用信息提取方法。采用Landsat 8 OLI影像,针对不同地物特点,阈值分割和多尺度分割结合创建影像对象,规则集和分类器协同分类,基于Relief F算法分别对光谱特征、纹理特征及所有特征降维筛选特征子集,并与全部特征一起应用RF建模,对龙口市进行土地利用信息提取与比较。结果表明：OBIA与RF结合提取土地利用信息,基于Relief F算法筛选纹理特征,保留完整光谱、几何、空间关系特征构建RF模型,建模错分率为0.0958,分类总体精度和Kappa系数分别为89.37%和0.872,取得较理想结果。该方法可应用于中分辨率遥感影像土地利用信息提取。