First trimester amniocentesis between the seventh and 13th weeks: Evaluation of the earliest possible genetic diagnosis

Amniocentesis performed at the 12th week and later gives reliable results. The procedure can be performed using regimens developed for mid-trimester amniotic fluid (AF) cells. Extension to the 10th–11th week is, in principle, feasible. However, the high cytogenetic failure rate is a difficulty and despite a high clone count, the culture time is prolonged. The problem of the relatively high loss of AF could be overcome by cell filtration techniques and replacement of the fluid. Because of the short turnover rate of the AF, this may be unnecessary or replacement with an isotonic solution may be sufficient. (Pseudo)mosaicism appears to occur more frequently in early than in late amniocentesis. As yet, data are too sparse to allow a comparison with chorionic villus sampling. There are no reliable follow-up data from which to estimate the abortion rate and the number of embryonic malformations.     

平阳霉素三种成分诱发CHO-K1细胞株染色体畸变和姐妹染色单体交换的研究

本文报道平阳霉素(Pingyangmycin,PYM)的三种成分A_2、A_5和A_6诱发CHO-K1细胞染色体畸变和姐妹染色单体交换(SCEs)。处理后第一次分裂中期染色体型畸变占优势,其中有大量的染色体碎裂(Disintegration),在含染色体碎裂的细胞中三分之一伴随出现双微体(Double minutes,DMs)。细胞畸变的频率随处理浓度升高而增加。 处理后第二次分裂中期,细胞畸变的频率仍随处理试剂浓度增加而升高,SCEs频率随处理浓度升高而递增。 上述三种成分诱发染色休畸变的类型没有质的差异。     

Chromosomal mosaicism confined to chorionic tissue

Chorionic villus samples from two healthy pregnant females were obtained for first trimester fetal diagnosis. The karyotypes were 46, XX/47, XX, +3 and 46, XX/47, XX, +15, respectively. In both cases fibroblast cultures after termination of pregnancy were shown to have normal karyotypes.     

Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling

Thirty-nine (2.3 per cent) of 1724 chromosome studies from diagnostic chorionic villus samplings (CVS) done between 1983 and 1990 showed either level III (true) mosaicism (1.2 per cent) or level II (pseudo-) mosaicism (1.1 per cent) for chromosomal aneuploidy. Follow-up information on these 39 pregnancies was collected from questionnaires to families, paediatricians, and obstetricians. For all cases in which the pregnancy was continued and further testing was accomplished, the mosaicism was felt to be confined to the placenta. As compared with a control group of pregnancies evaluated by CVS with normal karyotypes, there was no increased incidence of pregnancy loss, congenital malformations, or developmental delay in the infants. Although intrauterine growth retardation occurred in several of the level III mosaic cases, adequate catch-up growth has been demonstrated.     

氧化石墨烯遗传毒性的实验研究

研究氧化石墨烯(GO)的遗传毒性,考察其致突变作用,为GO在生物领域的安全应用提供依据。采用Ames试验、体外CHL细胞染色体畸变试验和小鼠体内染色体畸变试验,分别在细菌水平、细胞水平及整体动物水平研究GO的遗传毒性。GO各剂量组的Ames试验结果为阴性。CHL试验中,CHL细胞染色体畸变率随GO浓度的增加而升高,其中1.000 mg·mL~(-1)剂量组(+S_9)和0.500 mg·mL~(-1)剂量组(-S_9)畸变率显著升高(P 0.05)。小鼠骨髓细胞染色体畸变试验中,骨髓细胞染色体畸变率同样随GO浓度的增加而升高,1.000和0.500 mg·kg~(-1)剂量组的畸变率显著提高(P 0.05)。虽然Ames试验结果没有反映出GO的遗传毒性,但在体外及体内染色体畸变试验中,GO均表现出对哺乳动物细胞染色体有潜在的遗传毒性。     

The toxic and environmental evaluation of pyrolytic liquids by Allium cepa test

In this study, liquid products obtained from the pyrolysis of hazelnut shell (HS), with and without ultra-high molecular weight polyethylene (UHMWPE), were subjected to the Allium cepa test system. Pyrolysis in conjunction with the A. cepa test is a promising technology not only from the perspective of energy savings and a source of precious material, but in terms of the removal of hazardous material from the environment in safe manner. Dosages of pyrolytic liquids dissolved in water were determined according to lethal dose (LD₅₀), with three different solution concentrations. The preparates were dyed with acetocarmine. The mitotic index decreased and chromosomal aberration, especially stickiness and c-mitosis, increased with dosage and time. The addition of UHMWPE to HS in the pyrolysis process resulted in less harmful chemical agents, as observed by the relatively higher mitotic index and lower levels of chromosomal aberration.     

两种高效光引发剂的体外细胞染色体畸变实验（Effect of SO2 Derivatives on Liver T Lymphocytes Subsets CD4+/CD8+ of C57BL/6 Mice）

为检测高效光引发剂4,4′-二甲基二苯基碘鎓盐六氟磷酸盐(IHT-PI820)和2-异丙基硫杂蒽酮(IHT-PIITX)的染色体畸变作用,采用体外培养中国仓鼠肺成纤维细胞(CHL)染色体畸变实验,在代谢活化与非代谢活化条件下,观察PI820及ITX致CHL细胞株染色体数目及结构的变化.结果显示:在非代谢活化条件下,PI820引起CHL细胞多倍体增加,并具有剂量反应关系,在代谢活化条件下未见对CHL细胞染色体有损伤作用;在代谢活化与非代谢活化条件下,均未观察到ITX对CHL细胞染色体的损伤作用.PI820可引起CHL细胞染色体数目畸变,ITX无染色体畸变作用.     

Chorionic villus metaphase chromosomes and interphase nuclei analysed by chromosomal in situ suppression (CISS) hybridization

Metaphase chromosomes and interphase nuclei of chorionic villus samples (CVS) in five cases were studied after treatment with trypsin and post-fixation in formaldehyde by chromosomal in situ suppression (CISS) hybridization. Our modified protocol enables the use of in situ hybridization. techniques on CVS preparations after 42 h ofculture. A balanced translocation and trisomy 13 were identified with the aid of CISS hybridization.     

辽河流域水诱发蚕豆根尖细胞遗传损伤的研究

以辽河流域12个不同断面的河水为诱变剂,运用蚕豆根尖微核检测技术和染色体畸变实验方法,测定蚕豆根尖细胞的有丝分裂指数、微核率和染色体畸变率。结果表明:不同断面的河水均能降低蚕豆根尖细胞有丝分裂指数,能诱发较高频率的微核和染色体畸变,产生染色体断片、核突起和核碎裂。所有样点微核率和染色体畸变率均高于对照组。根据采样点水质污染指数分析可知,福德店水质属重度污染,东辽河、条子河、红庙子水质属中度污染,招苏台河水质属轻度污染。