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.     

Joint effects of heavy metal binary mixtures on seed germination, root and shoot growth, bacterial bioluminescence, and gene mutation

This investigation was to assess the joint effects of metal binary mixtures on seed germination,root and shoot growth,bacterial bioluminescence,and gene mutation based on the one toxic unit(1 TU)approach.Different sensitivities and orders of toxicity of metal mixtures were observed among the bioassays.In general,mostly additive or antagonistic effects were observed,while almost no synergistic effects by the binary metal mixtures in all bioassays.Therefore,the combined effects of heavy metals in the different bioassays were difficult to generalize since they were dependent on both chemical type and the organism used in each bioassay.However, these results indicate that a battery of bioassays with mixture chemicals as opposed to just a single assay with single metal is a better strategy for the bioassessment of environmental pollutants.     

天水市过去116年气温变化趋势及突变分析

天水位于青藏高原东北部的副热带北部边缘,受大陆性季风气候的影响,生态环境脆弱,是研究全球变化区域响应的理想之地。基于天水市1901—2016年的月平均气温资料,运用一元线性回归、5年滑动平均和Mann-Kendall非参数检验等方法分析了过去116年来天水市气温在不同尺度上的变化特征及突变节点。结果表明：天水市1901—2016年气温总体呈上升趋势,气候倾向率为0.058℃?(10a) ^?1。各季节均表现出增温趋势,春季、夏季、秋季和冬季的线性倾向率分别为0.084℃?(10a) ^?1、0.019℃?(10a) ^?1、0.022℃?(10a) ^?1、0.102℃?(10a) ^?1。最冷月份1月及最热月份7月同样表现出增温趋势,线性倾向率依次为0.085℃?(10a) ^?1、0.038℃?(10a) ^?1。年平均气温在1923年和1993年发生了两次突变。春季和秋季突变年与年平均气温基本一致,夏季气温突变存在超前和滞后现象,冬季突变时间为1978年。最冷月份1月平均气温在1977年发生突变,最热月份7月平均气温突变年份集中在2000年之后。总体而言,天水市过去一百多年来,气温呈上升趋势与全球变暖大背景一致。     

黑龙江哈尔滨地区近60年极端气温变化研究

用1955~2013年哈尔滨市、尚志市(县)和通河县逐日气温资料,采用线性倾向法、距平及累积距平法、Morlet复数小波、主成分分析、相关性分析和Mann-Kendall检验法,对11个常用气候指标进行分析。结果表明,哈尔滨夏、秋、冬季气温呈上升趋势,冬季升温极为显著,春季气温以0.60℃/10a的速度显著下降;年均气温、年均最低温、年均最高温均有所增加,年均最低气温升幅最大。年极端最高气温、年极端最低气温、夏日日数、热夜日数、暖夜日数和暖日日数6个指标呈上升趋势变化;结冰日数、霜冻日数、冷夜日数、冷日日数及气温年较差5个指数呈下降趋势。年极端最高气温、年极端最低气温及变化率较大的暖夜日数,均有28~30 a的第一主周期和17~18 a的第二主周期,冷夜主要有3、6和8 a的短周期。主成分分析结果表明,高载荷的指数暖夜、冷夜和暖日这些相对指数的变化是哈尔滨极端气温变化的主要原因。相关关系矩阵表明,相对指数间的相关性极为显著;各暖指标、各冷指标间呈正相关,暖指标和冷指标间呈负相关。Mann-Kendall检验得知,冰日、冷夜和冷日三个冷指标的突变发生在20世纪70s、80s,其他指标的突变主要发生在1990~1999年间。总之,哈尔滨平均气温以0.32℃/10a的速率增加,升温幅度高于全国平均升温值0.26℃/10a,研究结果可为防灾减灾提供理论依据。     

Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome

We prenatally diagnosed MELAS syndrome in a fetus whose mother and older brother had the MELAS-specific A3243G mutation. The mutant mtDNA level of the amniotic fluid cells was not significantly different from that of the postnatal peripheral blood and hair follicle samples. The obstetrical course was uncomplicated except for transient exacerbation of the mother's diabetes, which required insulin control. At term, the infant was macrosomic, and the delivery was complicated by shoulder dystocia. MELAS syndrome in itself does not influence either the prenatal course of the mother or the fetal outcome. In contrast to the fulminating clinical course of this mother's first child, MELAS symptoms did not develop in her second child until age four, despite similar high tissue levels of mutant mtDNA. The phenotypic diversity in two offspring with similar higher levels of mutant mtDNA suggests that prenatal genetic diagnosis of cultured amniotic cells may yield results that are poor prognosticators of fetal outcome. Copyright © 2004 John Wiley & Sons, Ltd.     

低能N+离子注入Spj0104菌株的诱变选育研究

利用低能N 离子注入对Spj0104菌株进行诱变育种,作了多梯度能量和剂量实验,通过对注入后诱变菌株的摇瓶发酵检测,得出适合的能量为30 KeV,剂量为6.0×1015ions/cm2.在合适的能量和剂量基础上对能量、剂量、脉冲和间隔时间进行了正交实验,确定出最佳注入条件为能量20 KeV,剂量4.0×1015ions/cm2,脉冲时间15 s,间隔时间15 s.并在此条件下对一次离子注入后获得的优良菌株Spi03做了二次离子诱变,筛选到一株菌株酶活较出发菌株提高了174.98%的高产菌株Sp208.图2,表5,参8.