家蚕斑纹限性品种SC_1的RAPD差异DNA片段的克隆及其酶切图谱分析

利用RAPD技术对家蚕限性普斑品种SC1的雌雄体分别进行PCR扩增通过120种引物的筛选,得到1个雌体特异的RAPDDNA片段将该片段克隆到pUC19质粒,井进行了限制性内切酶图谱分析.     

Assessment of Genotoxicity of Lignin Substances as Risk Factors for Aquatic Ecosystems

The genotoxicity of lignin substances (LSs) isolated from biologically purified wastewaters of the pulp and paper industry was studied in experiments on Baikal endemic mollusks and corn. Both toxicity and mutagenic activity of LSs were revealed, with their levels depending on the physicochemical characteristics of LSs, the test organism, and experimental conditions. These results provide evidence that LSs discharged into water bodies create a genetic hazard to their ecosystems.     

An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue

While the fetus and placenta have a common ancestry, chorionic villus tissue does not always reflect fetal genotype. Data are presented from 15 CVS subjects in whom cytogenetic inconsistencies were observed when comparing (1) cultured chorionic villi, (2) direct chromosome preparations of intact villi, and (3) cultured fetal tissue. Embryogenic models are presented to explain these discrepancies. Mosaicism confined to direct chromosome preparations was the most commonly observed inconsistency. This can be explained by postzygotic non-disjunction limited to cytotrophoblast. In all but one instance, the abnormal cell line was limited to the placenta, with the normal cell line reflecting fetal genotype. Analysis of direct chromosome preparations from multiple individually processed villus fragments may be helpful in recognizing mosaicism confined to the placenta. While both direct chromosome preparations and villus cultures can be misleading, the latter are more likely to reflect fetal genetic status since they are derived from the extraembryonic mesoderm.     

Admixture of maternal metaphases in first trimester direct chromosome preparations?

The autoradiographic labelling of different cell types in chorionic villi and decidual tissue was investigated after [³H]-thymidine incorporation in vitro. Although the extent of labelling was found to be lower in decidual than in villus tissue the possibility that direct chromosome preparations may contain maternal metaphases should be considered. The need for careful selection of villi for direct cytogenetic analysis was stressed.     

Effects of Zn2+ on root growth,cell division, and nucleoli of Allium cepa L.

The effects of different concentrations of Zn²⁺ion on root growth,cell division,and nucleoli of Allium cepa were studied. The test Zn²⁺ ion concentration was made up from zinc sulphate (ZnSO₄. 7H₂O) ranging from 10^-7 to 10^-2 mol/L. The solutions were prepared in tap water (pH =6. 5).The results indicated that Zn²⁺ could obviously inhibit root growth at concentrations from 10^-4)to 10^-2 mol/L.Roots treated with zinc sulphate showed the presence of c-mitosis, anaphase bridges,including sticky and fluidized bridges (at 10^-3 to 10^-2 mol/L) , chromosome stickiness, irregularly shaped nuclei, broken nuclei and micronuclei. A toxicity effect was also observed on the nucleoli using silver staining technique after 48h of treatment with 10^-4to 10^-2 mol/L Zn²⁺, e. g,the nucleolar particulate material scattered around the nucleoli in the nucleus of root tip cells.     

二种除草剂遗传毒性的研究

以黄鳝为试验材料,研究了艾割和使它隆二种除草剂对鱼类的致突变性。对经腹腔注射染毒上述二种除草剂的受试黄鳝,通过对其活体肾细胞染色体数目和形态的观察,分析其突变率。研究结果(经t检验)显示:艾割和使它隆二种除草剂分别在其试验最低受试剂量50mg/kg和8.0mg/kg即可引起黄鳝的染色体畸变。采用SOS/Umu显色试验研究,在SOS/Umu试验中,使它隆和艾割2个受试除草剂可以诱发SOS阳性反应,且呈明显的剂量-效应关系。试验表明这二种除草剂具有遗传毒性,应对这二种除草剂严加管控,避免其对环境的影响。     

Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4,6, 15 and 16, was found in cultured cells of amniotic fluid from a 32–year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of peripheral blood from both parents were normal. The couple was counselled for the prenatal diagnosis of this de novo complex translocation and, subsequently, elected to terminate the pregnancy. Post-mortem examination revealed a 23–week fetus with intrauterine growth retardation. The identical chromosome rearrangement was subsequently confirmed in cultured fibroblasts from skin and cord obtained from the abortus. To our knowledge, this is the first report where routine prenatal diagnosis revealed a fetus with a balanced complex chromosomal rearrangement involving four chromosomes of de novo origin.     

Women's choices for fetal chromosome analysis

Five hundred and eighty women aged 35 or more at the expected date of delivery were offered the chance to join the MRC trial comparing CVS and amniocentesis at Queen Charlotte's Hospital. After a 1 h non-directive counselling session, they were asked to choose between having no test, having amniocentesis, or joining the trial in the hopes of having CVS (or in some cases having CVS outside the trial). The majority of women chose to have some test, and CVS was a more popular choice than amniocentesis.     

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by fish

In a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow-up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34-year-old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.     

Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

Nine hundred and thirty-six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of maternal age. Frequencies of chromosomal aberrations in each case were respectively 4·4, 6·7 and 15·8 per cent, compared with 3·18 per cent when the fetal karyotype was performed because of maternal age. High rates of chromosomal aberrations are observed in cases of cervical hygroma, limb abnormalities, omphaloceles, duodenal stenosis, hydrocephalus, and facial abnormalities. In the case of polymalformations, this rate was 29·2 per cent. When malformations were seen together with an amniotic fluid disorder or growth retardation, 21·5 per cent chromosomal aberrations were observed. This frequency was 10·4 per cent when growth retardation was associated with an amniotic fluid disorder. Trisomy 13, 18, 21 and monosomy X accounted for 4/5 of all abnormalities in which we observed a high rate of triploidies (4·9 per cent) and balanced (3·3 per cent) or unbalanced (9·8 per cent) non-Robertsonian structural abnormalities. Sonographic ascertainment of these aberrations and prenatal characteristics of major anomalies are discussed.