DNA链断裂作为醛类污染物接触标志物的研究

应用单细胞凝胶电泳技术 ,通过对小鼠脾淋巴细胞染毒试验 ,测定了甲醛、乙醛、丙稀醛单独及联合作用下对细胞DNA分子链断裂损伤。结果表明 ,3种醛均能引起DNA分子发生链断裂 ,对于乙醛和丙稀醛存在明确的剂量 -反应关系 ,3种化合物还还存在着一定的协同作用。上述结果提示醛类污染物潜在致癌性的一个可能机制以及DNA断裂作为醛类化合物接触标志物的可能性。     

Detection of both the normal and mutant alleles in single cells of individuals heterozygous for the sickle cell mutation—prelude to preimplantation diagnosis

As a preliminary step to preimplantation diagnosis of sickle cell disease in unfertilized eggs or 8-cell embryos of heterozygous parents, we established quality control for detection of the mutant and normal alleles of the beta-haemoglobin gene using single buccal cells. Efficient polymerase chain reaction (PCR) amplification of a 680 base pair sequence of the beta-globin gene spanning the site of the sickle cell mutation was obtained for 79 per cent of single heterozygous cells. In 71 per cent of cases, both alleles were detected. With this current efficiency, we predict that a clinical preimplantation diagnosis at the 8-cell embryo stage could be carried out safely and reliably for a couple at risk of transmitting sickle cell disease to their children.     

A routine method for storing lymphocytes for repeated isolation of DNA

A protocol for easy storage and later expansion of lymphocyte populations is given. Compared with methods using transformed cell lines, the method has a number of advantages for repeated production of cells for the isolation of DNA in amounts sufficient for use in diagnostic DNA technology.     

宿迁3次突发性空气重污染过程对比分析

利用空气质量资料、常规观测资料、NCEP1.0°×1.0°再分析资料，应用数理统计、天气学等方法对宿迁市3次突发性重污染天气进行对比分析.结果表明：①宿迁"突发"空气重污染时，AQI级别由前一日的一、二级至第2日转为五级以上，AQI值迅速上升.②3次空气重污染过程天气背景相似，高层为宽广平直的偏西气流，地面受高压控制，中低层风向和温度平流突然转变，且都有深厚的逆温层结；持续变化较小的气压梯度、较低风速、温度日较差及相对湿度的增大（150328过程（即2015年3月28日—4月1日污染过程）除外）为颗粒物浓度迅速增长提供了条件.③大气稳定度级别迅速变高和混合层高度迅速降低并维持，对污染物快速聚集有显著影响.④物理量诊断表明，污染发生前期上空为弱上升运动，随后迅速转为下沉运动，或气流下沉运动区域迅速扩大、升高，是空气质量迅速转差的重要动力因素.⑤内蒙古地区的沙尘远距离输送形成的污染，是造成150328过程与另外两次过程明显不同的主要原因.     

Prenatal diagnosis of spinal muscular atrophy in Russia

Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.     

In vitro characteristics of human fetal cells obtained from chorionic villus sampling and amniocentesis

In vitro characteristics of human fetal cells have been investigated after chorionic villus sampling at the first trimester and amniocentesis at the second trimester of pregnancy. Light microscopy revealed heterogeneous morphology of cell types in both the chorionic villus culture and the amniotic fluid cultures. Based on the experiments performed, chorionic villus cells are more sensitive to pronase, trypsin, and versene during subculture and have a higher DNA content per single cell and release more [¹²⁵I]-Beta-human chorionic gonadotropin into culture medium than those found in amniotic fluid cells. The practical applications of this study are discussed.     

Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

难降解有机物标准溶液的研制

介绍了难降解有机物标准溶液研究、制备方法，进行了均匀性检验、稳定性检验，统计计算了检验结果，基本确定主要参数。检验结果表明： 按该法配制的标准溶液均匀，在一年保存期间内稳定，标准溶液符合国家标准，可用于海洋环境监测。     

用UDS试验检测黄浦江水质致遗传毒性

本文运用UDS试验来检测黄浦江水质致遗传毒性,结果表明,试验条件是可行的。UDS试验从DNA修复合成的角度来反映受试物的致遗传毒性作用,可作为水质评价的方法之一。     

DNA polymorphism and globin chain analysis in the prenatal diagnosis of β-thalassaemia major in Taiwan

Thirty-six pregnancies in 25 families at risk of β-thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the β-globin gene cluster: ϵ-HincII, ^Gγ-HindIII, ^Aγ-HindIII, Φβ-HincII, 3′Φβ-HincII, β-AvaII, and 3′β BarnHI. β-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, β-thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound-guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea-acetic acid-Triton X-100-12 per cent polyacrylamide gel electrophoresis. β-Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which β-thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of β-thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.