Detection of a new mutation (1467-A) for the pedigree withmucopolysaccharidosis type Ⅱ from a Chinese family

Mucopolysaccharidosis type II (MPS II) is a disabling, fatal monogenic disease caused by abnormal metabolism of the mucopolysaccharides[1]. Gene mutation is the basic cause of MPS II and investigation of the IDS gene muta-tion is the premise for prenatal gene diagnosis and gene therapy. MPS II is worldwide distributed with high inci-dence and serious results. To study the IDS gene of Chi-nese MPS II patients is important not only in carrying out one-family policy but also in upraisi…     

工程结构优化设计的CGA算法研究

工程结构优化设计是一个复杂的非线性多目标优化问题，针对传统优化方法的局限性，以及遗传算法的缺陷，提出了一种新的智能优化方法——复合遗传算法(CGA)，对CGA的关键问题进行了阐述，并进行了理论分析，说明了其全局寻优的可能性；对于失效概率的处理问题，采用在计算适应度值的同时，计算出条件值——失效概率，再与此限值相比较的方法；最后通过实例验证了本提出方法的可行性。     

水平井中钻柱旋转对岩屑运移影响规律研究

由于水平井井身结构的特殊性,岩屑较易在斜井段及水平段中沉积形成岩屑床,进而导致卡钻等一系列问题。分析了水平井岩屑运移机理,并建立了水平井中岩屑运移临界流速数学模型。研究钻柱偏心度、转速、井斜角、岩屑粒径及流体粘度对于临界流速的影响。研究表明,钻柱转速增大,直井段岩屑运移临界流速增大,水平段岩屑运移流速减小;井斜角较小时,岩屑运移所需的临界流速随偏心度增大;井斜角较大时,在偏心度较小条件下,岩屑运移所需的临界流速略有增大;而在偏心度较大条件下,岩屑受钻柱转动影响进入悬浮运移状态,运移所需的临界流速急剧减小。岩屑粒径越大其运移所需的临界流速越高,钻井液黏度的增大有利于降低岩屑运移临界流速。     

组合塑料碳素纤维生物膜技术处理景观水体的研究

对一种新型组合碳素纤维填料应用到生物膜技术中进行了研究,探讨其对于富营养化景观水体的净化效果及最佳填充量。首先采用污水厂的活性污泥进行曝气挂膜,待挂膜成熟后,在温度25℃左右,曝气量2. 5 L/min条件下对比填料在0. 1、0. 3、0. 6、0. 9、1. 2 g/L等不同膜填充量下净水效果,探讨该组合材料处理景观水体的最佳膜填充量。结果表明:新型组合材料在膜填充量分别为0. 1、0. 3、0. 6、0. 9、1. 2 g/L时COD_(cr)去除率分别为81. 33%、88. 33%、91. 67%、98. 33%、81. 67%; TN去除率分别为42. 32%、45. 61%、53. 13%、60. 01%、44. 48%; TP去除率41. 51%、79. 39%、83. 76%、80. 12%、74. 29%。研究表明,该组合填料最佳膜填充量为0. 9 g/L,对富营养化水体中的COD_(cr)、TN、TP有良好的去除效果,是一种高效的新型水处理材料。     

Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type Ⅱ from a Chinese family

Mucopolysaccharidosis type Ⅱ is of high genetic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS Ⅱ pedigree. A new mutation （1467-A） not yet reported worldwide was detected. This mutation located at 448th codon in the coding region of exon 9 deletes one “A” at the end of 1467 bp （cDNA）. The frame-shift mutation makes the peptide chain shorten from amino acids 550 to 459, probably altering the configuration of IDS enzyme protein remarkably and lowering the activation of IDS greatly. Therefore it is supposed to be the direct cause of the patient with MPS Ⅱ and to be a necessary premise for prenatal gene diagnosis.