1951—2014年中国北方地区季节气温突变与变暖停滞年份的时空变异性

利用中国北方357个气象站1951—2014年的季（月）平均最低气温,平均气温和平均最高气温数据,应用Mann-Kendall检验等方法,分析了中国北方地区三类气温季节突变与变暖停滞年份时空变异性。结果表明：平均最低气温、平均气温和平均最高气温各季节整体随纬度降低突变和变暖停滞年份变晚,突变至变暖停滞周期缩短。东北春、冬季突变和变暖停滞整体最早（20世纪70年代至80年代、1993—2002年）,华北次之,西北最晚（20世纪80年代至21世纪前10 a、1996—2010年）;夏、秋季突变华北最早（20世纪70年代和90年代）,东北次之,西北最晚（20世纪90年代至21世纪前10 a）,变暖停滞年份地区差异较小。平均最高气温未突变和平均最低气温未停滞站点较多,均主要分布在山地、高纬度地区和华北平原南部,其周边区域突变及停滞年份相对偏晚。同类气温突变和变暖停滞年份整体上分别按冬（1981—1990年）、春、秋、夏季（1994—2008年）和冬（1995—2008年）、秋、夏、春季（1998—2010年）顺序依次变晚,冬→春→秋→夏季突变至变暖停滞周期依次缩短。春、夏和冬季均为平均最低气温整体突变最早（1972—1999、1987—1999、1971—2000年）,平均气温次之,平均最高气温最晚（1975—2008、1994—2008、1972—2006年）,秋季与之不同。春、夏季整体按平均最低气温（1994—2008、1997—2008年）、平均气温、平均最高气温（均为1997—2010年）停滞依次变晚,秋、冬季与之相反。各季节突变至变暖停滞周期整体按平均最低气温（9~18 a）、平均气温和平均最高气温（5~12 a）依次缩短。夏季三类气温均在华北南部（低纬度）突变最早,与研究区整体规律相悖,该地区大部分站点未停滞,亦与突变早停滞也早的整体规律不同。     

PTA高效降解菌制备与PTA废水生物处理研究

筛选出了4株对苯二甲酸(TA)的高效降解菌,利用诱变技术,使菌种的DNA结构发生突变,提高了菌种降解性能,并对优化后的菌种进行固定化包埋,形成高效菌对苯二甲酸(PTA)废水生物处理技术,处理负荷达到5kgCOD/m3·d以上。     

Germline mosaicism complicates molecular diagnosis of Lesch–Nyhan syndrome

A healthy female with a brother suffering from Lesch–Nyhan syndrome was assigned a carrier status on the basis of haplotype analysis employing flanking and intragenic polymorphic markers of the HPRT gene. Her mother has been confirmed as a definite carrier by cell growth selection studies in cultured fibroblasts. In our proposita's first pregnancy, a male fetus was identified carrying the risk allele. Afterwards, the underlying novel mutation A161E (GCA→GAA at position c482) could be identified in the affected brother and in the heterozygous mother but not in the DNA of the pregnant sister and fetus. The fetus was also confirmed to be normal by uptake of 14C-hypoxanthine in cultured amniotic cells. To test the discrepancy, the investigation was extended by recruiting additional family members. The data obtained showed that the mother had passed her risk haplotype to the affected son as well as to her mutation-carrying and non–mutation-carrying daughters. This provides the first evidence of concomitant somatic and germline mosaicism in Lesch–Nyhan syndrome. The study has a bearing on genetic counselling and cautions against the reliability of only using indirect genetic diagnosis even with intragenic markers. Copyright © 2004 John Wiley & Sons, Ltd.     

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis

Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. In its classical, severe form, sulfite oxidase deficiency leads to intractable seizures, severe and progressive brain pathology and death at an early age. We report here on clinical features and mutational analysis of the genetic defect in a newborn with sulfite oxidase deficiency. Cultured fibroblasts from this patient exhibited no detectable sulfite oxidase activity, and a unique four base pair deletion was present in the cDNA isolated from the same source. Identification of the same genetic defect in a heterozygous state in each of the parents and the monitoring of subsequent pregnancies in this family by DNA-based prenatal diagnosis are also described. The deletion mutation was identified in a homozygous state in uncultured chorionic villus tissue from the second pregnancy that was subsequently terminated. In the third pregnancy, the presence of sulfite oxidase activity and identification of the mutation in a heterozygous state suggested that the fetus was not affected. This pregnancy resulted in the birth of a normal child. Copyright © 2002 John Wiley & Sons, Ltd.     

基于突变理论的油库火灾爆炸分析与模糊动态评价

通过对目前油库常用评价方法的分析,这些方法存在的缺点主要是评价中参数值的选取、各评价指标权重的确定以及评价因素重要性的确定等问题,因易受到参评人员主观的影响,而导致评价难以获得客观结果。笔者提出了基于突变理论的模糊动态评价方法。介绍了突变理论的基本原理;建立油库火灾爆炸尖点突变模型,并对油库火灾爆炸现象进行突变分析;重点研究基于突变理论的油库模糊动态评价的基本思想和方法,通过对评价目标进行多层次分解,根据突变论归一公式进行量化递归运算,分别计算出不同时期油库安全总突变隶属函数值,从而实现对油库安全状态的模糊动态分析与评判。该方法的优点就在于各指标的重要性及其量化是根据突变论中归一公式本身的内在机理决定的,既避免了评价指标权重的确定问题,又减少了评价人员主观因素的影响。因而,评价结果客观、准确。示例表明,该方法是合理可行的。     

Prenatal diagnosis of Niemann–Pick diseases types A,B and C

Prenatal diagnosis of Niemann–Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann–Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of β-thalassemia in Southern Punjab,Pakistan

Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for β-thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of β-thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing β-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 β-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of β-thalassemia were noticed in the families with affected children and in the general population. Copyright © 2006 John Wiley & Sons, Ltd.     

一株高效产氢突变体RF-9的筛选与产氢特性

以从连续流搅拌槽式反应器(CSTR)内的活性污泥中分离出的厌氧产氢菌Ethanologenens sp.ZGX4为出发菌株,经过紫外线和亚硝酸复合诱变,从大量的突变体中筛选出一株稳定的高效产氢菌株RF-9.磷酸盐浓度在120mmol/L、温度37℃、初始pH6.0、葡萄糖浓度10g/L培养条件下,RF-9的单位体积产氢量和氢气产率为139.7mmol/L和2.52mol H2/mol葡萄糖,分别是对照的1.50倍和1.43倍.在发酵时间为15h、pH4.1、细胞干重0.722g/L时,RF-9获得其最大产氢速率345mLH₂/(h·L),是对照ZGX4的1.41倍.RF-9的主要液相末端产物为乙醇和乙酸,为典型的乙醇发酵细菌,与对照相似.