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11.
I. Shagina H. L. Dadali V. P. Sitnikov V. V. Pugachev N. A. Malygina O. V. Evgrafov 《黑龙江环境通报》1995,15(1):27-34
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. 相似文献
12.
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. 相似文献
13.
Mr. M. T. Rebello G. Hackett J. Smith F. E. Loeffler S. Robson N. Maclachlan R. W. Beard C. H. Rodeck R. Williamson D. V. Coleman C. Williams 《黑龙江环境通报》1991,11(1):41-46
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. 相似文献
14.
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。 相似文献
15.
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. 相似文献
16.
A syncytiotrophoblast-associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315+ cells and their use for prenatal diagnosis of β-thalassaemia. H315 + cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible. 相似文献
17.
Wang Liming Zhang Junwu Wu Guanyun Wang Shenwu Fan Yu Huang Youwen Zhao Letian Wang Rongxin Su Jidong Zhang Nijia Long Guifang Li Qi Zou Peng Liang Rong Liang Xu 《黑龙江环境通报》1986,6(2):89-95
By means of chorion biopsy together with restriction endonuclease analysis of fetal DNA, first trimester diagnoses were successfully made in 33 fetuses at risk for Bart's hydrops fetalis. Seven pregnancies with Hb H or hydrops fetalis were therapeutically terminated before 4 months of gestation. Of the 26 pregnancies intended to continue, 18 have come to term with normal deliveries; one with threatened abortion was terminated at the end of the first trimester and, seven are progresssing normally. 相似文献
18.
应用液相色谱结合电化学检测技术,研究了标准石英粉尘和青石棉体外诱导DNA分子氧化损伤产生加合物8-羟基脱氧鸟苷的形成与机制。结果表明,石英粉尘和青石棉均可致DNA分子氧化损伤并形成8-羧基脱氧鸟苷,但青石棉作用强于石英粉尘;石英粉尘的青石棉对H2O2氧化DNA的催化能力有较大差异。标准石英粉尘和青石棉,具有直接的遗传毒性;两者诱导DNA分子形成强致突变的8-羧基鸟苷可能是其潜在致癌机制之一。 相似文献
19.
E. Keller Dipl.-Biol. A. Andreas S. Scholz H. C. Dörr D. Knorr E. D. Albert 《黑龙江环境通报》1991,11(11):827-840
In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci. 相似文献
20.