F1ashMX制作“染色体畸变综合征”网络课件的研究

根据自己在制作“染色体畸变综合征”网络课件所积累的实践经验和一些制作体会,着重介绍如何用FlashMX制作“染色体畸变综合征”的网络型多媒体课件,以及如何使用制作技巧。     

一例罕见的47,XY,+19/47,XY,+21类先天愚型

自Lejeune(1959)首次发现先天愚型具第21号常染色体三体性以来,各国报道了很多与染色体畸变有关的精神发育不全的综合征。但有关F组染色体畸变所致精神发育不全的报道甚少。本文报告一例核型为47,XY,     

利用方正奥思设计和制作基础护理多媒体课件的研究

通过总结护理多媒体课件制作的实践经验,介绍如何利用方正奥思制作护理多媒体课件,并对课件的制作工具、设计思想、制作技巧、设计方法与过程做了详细介绍。笔者利用奥思制作的多媒体课件应用于护理学生的教学,取得了良好的教学效果。     

用染色体畸变评价辐射防护药的新方法

在辐射损伤化学防护的研究中,如何定量地评价动物实验有效的辐射防护药,外推于人类的防护效果,是当前一项十分重要的研究课题。细胞遗传学方法即染色体畸变分析,由于畸变率和照射剂量之间有密切的关系,用外周淋巴细胞染色体畸变率作为生物剂量     

生物课件制作三步曲

制作多媒体教学课件已经成为现代生物教学的重要教育教学技能之一。本文结合作者的课件制作实践,就如何快速、高效地制作出多媒体生物课件提出了基本的制作方法和思路,对中学教师自己制作课件具有一定的参考价值。     

唐氏综合征的临床特征,遗传机理与防治措施

唐氏综合征的临床特征、遗传机理与防治措施凌庆枝（安徽省淮南矿业学院医学分院２３２００１）１概述唐氏综合征（Ｄｏｗｎ’ｓＳｙｎｄｒｏｍｅ）,又称先天愚型。伸舌样呆痴、２１－三体综合征,是一种常染色体畸变遗传病。此病最早由约翰·兰登·唐（ＪｏｈｎＬａｎｇ...     

金不换群三七液对哺乳动物致突变和致畸安全性评价

研究了金不换鲜三七液特殊毒理学效应的致突变性。以小鼠骨髓细胞染色体畸变试验,小鼠睾丸减数分裂染色体畸变及小鼠致畸试验为指标,研究金不换鲜三七液的安全性。结果：（１）小鼠骨髓细胞染色体畸变试验：低,中,高３个剂量组小鼠肌髓细胞染色体畸变率分别为０．７％,０．２％和０．９％,与对照组相比无显著差异。阳性对照组染色体畸变率大大增高。（２）小鼠睾丸减数分别细胞染色体畸变;在本实验条例上,小鼠睾丸细胞染色体     

10例易位携带者的遗传效应初探

染色体易位是人类常见的染色体畸变,国 内外学者从不同角度,包括新核型的发现、分 类、发生机理、遗传效应等都做了不少研究。但 应怎样评价染色体畸变,看法很不一致。本文 试图通过10例遗传性染色体畸变病例的讨论, 阐述染色体易位携带者对子代染色体畸变的影 响。     

60Coγ射线辐射中国水仙的细胞学诱变效应

用60Coγ射线辐射中国水仙三年生鳞茎,首次研究了辐射后中国水仙鳞茎M1代形态损伤、剂量效应曲线、细胞学变化及其与形态变化的关系。结果表明,60Coγ射线抑制细胞分裂,降低细胞分裂指数,引起中国水仙的形态损伤,并诱发中国水仙染色体畸变和核畸变,畸变类型丰富。在染色体畸变中染色体桥的发生频率较高,随着辐射剂量的增加染色体断片率提高。细胞核畸变中,微核发生率最高。核畸变率、染色体畸变率与剂量间存在显著的线性正相关,相关系数分别为0.9874、0.9829,线性方程表达式分别为Y=-0.085 1.0385X,Y=-9.6727 2.3697X。间期细胞微核率与分裂期染色体畸变率间呈正相关。     

小鼠染色体畸变类型研究

世界卫生组织对人体细胞染色体分析方法作了详细的规定,使各实验室的结果便于比较。小鼠是遗传学研究的常用动物,但迄今关于小鼠体细胞、生殖细胞染色体畸变分析方法尚无统一规定。小鼠的染色体属端着丝粒染色体,其结构畸变与人类的染色体结构畸变类型     

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

Using a nonfluorescent AT-specific oligopeptide antibiotic, Distamycin A, on DAPI fluorescent banding of human chromosome (DA-DAPI) as described by Schweizer et al. (1978), we have detected an additional idic(15p) chromosome in a patient with typical Prader-Willi syndrome. On the basis of the evidence available in previous studies and of our own present results, we suspect that the fundamental genetic error in the syndrome is not caused by a chromosome aberration but by a gene aberration on chromosome 15.     

Chromosome mosaicism in a population sample.

An analysis has been made of mosaicism found in the different types of chromosome abnormalities among the 19000 persons examined at the Cytogenetic Laboratory, Risskov. The percentage with mosaicism was 36 in both triple-X and Turner's syndrome, it was 7 and 11% in XYY and Klinefelter's syndrome, respectively, and 2 in autosomal abnormalities. We found a mosaicism frequency of 11% in population studies with 5 cells analyzed primarily compared with 7% in other studies, in which 10-50 cells were analyzed primarily. (The difference is not significant.) The total frequency of mosaicism was 8%. The first cell with the chromosome aberration establishing the mosaicism was found among the first 5 cells in 40 of the 44 cases with mosaicism, and all but one of the 44 cases would have been established as mosaics, if the guidlines indicated by Bochkov et al. (1974) had been followed; that is 11 cells analyzed primarily, and if one of these cells has a chromosome aberration, the number of cells analyzed is increased to 17; if 2 cells have the same chromosome aberration, the number of cells analyzed is extended to 23, and if 3 cells with the same chromosome aberration is found among these 23 cells, the mosaicism is established. Aneuploid or structural chromosome abnormalities present in all cells may be detected by analysis of 2-3 cells of good quality. Mosaicism with 2 or more cell clones with different chromosome patterns are extremely difficult to detect, if the percentage of cell clones with chromosome aberration is low. The incidence of chromosome abnormalities found in all cells in newborn children in the different studies is very similar as shown in a recent survey of 6 different studies by Jacobs et al. (1974). The incidence of mosaicism varies according to the frequency of artefactual aneuploidy, the variety of tissue studied, number of cells analyzed from each tissue as well as the acuity of the observer and the checking procedures.     

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with Prader-Willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and Angelman syndrome was demonstrated.     

Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's syndrome

Summary The cytogenetics of six cases of adult progeria (Werner's syndrome) from three Sardinian families were investigated. The overall increased incidence of chromosome breakage found in cultured lymphocytes and fibroblasts seems to be age-dependent. The occurrence of clonal variegated translocation mosaicism, previously found by other authors in fibroblast cell lines derived from Werner patients was demonstrated also in fibroblasts analyzed in situ on the outgrowth halos from primary skin explants; a strong indication that these aberrations are present in the in vivo precursors. The same type of clonal structural aberration was found for the first time also in 72h-cultured lymphocytes. These findings demonstrate that Werner's syndrome is indeed a further example of a chromosome rearrangement syndrome.     

A patient with Down syndrome with a de novo derivative chromosome 21

Pure partial trisomy of chromosome 21 is a rare event. The patients with this aberration are very important for setting up precise karyotype-phenotype correlations particularly in Down syndrome phenotype. We present here a patient with Down syndrome with a de novo derivative chromosome 21. Karyotype of the patient was designated as 46,XY,der(21)(p13)dup(21)(q11.2q21.3)dup(21)(q22.2q22.3) with regard to cytogenetic, FISH and array-CGH analyses. Non-continuous monosomic, disomic and trisomic chromosomal segments through the derivative chromosome 21 were detected by array-CGH analysis. STR analyses revealed maternal origin of the de novo derivative chromosome 21. The dual-specificity tyrosine (Y)-phosphorylation regulated kinase 1A (DYRK1A) and Down Syndrome Critical Region 1 (DSCR1) genes that are located in Down syndrome critical region, are supposed to be responsible for most of the clinical findings of Down syndrome. However, our patient is the first patient with Down syndrome whose clinical findings were provided in detail, with a de novo derivative chromosome 21 resulting from multiple chromosome breaks excluding DYRK1A and DSCR1 gene regions.     

肿瘤染色体畸变分析方法新进展

摘要: 肿瘤的发生多与染色体畸变有关, 确定染色体畸变与肿瘤的关系, 必然离不开染色体畸变的检测分析。文章简要综述几种常用染色体畸变的检测方法及其新进展, 包括G显带、荧光原位杂交(FISH )、光谱核型分析(SKY)、多色荧光原位杂交(M-FISH)、多色显带分析技术(Rx-FISH)、比较基因组杂交(CGH)和微阵列比较基因组杂交(Array CGH), 以及这些方法在肿瘤诊断和研究方面的应用。     

Trisomy 4q syndrome: presentation of a new case and review of the literature

We describe the 11th case of a de novo partial trisomy of the long arm of chromosome 4, with the extra segment spanning from 4q27 to 4q35. The aberration resulted from an unbalanced translocation of material from 4q to the short arm of chromosome 7, as evident from fluorescent in situ hybridization. Microsatellite analysis revealed the extra material to originate from the father. The karyotype was interpreted as 46,XX,der(7)t(4;7)(q27;p22). The patient is a 13-year-old girl with severe mental retardation, growth retardation, hearing impairment as well as minor foot, thumb and facial anomalies. Although the extent of the aberration varies between the reported patients, there are nevertheless features in common, suggestive of a trisomy 4q syndrome. The clinical findings most frequently reported are: mental retardation, seizures, microcephaly, hearing impairment and growth retardation, as well as epicanthic folds, high/broad/depressed nasal bridge, malformed ears, tooth and thumb anomalies. Almost the entire long arm of chromosome 4, except band q11, has been involved in trisomies/duplications, but 4q27 and 4q31 seem to be preferentially engaged in the trisomy 4q syndrome.     

Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf- Hirschhorn syndrome

Discrepant unbalanced structural chromosome aberrations between placental and fetal tissue, both involving the short arm of chromosome 4, were found in two human fetuses affected with Wolf-Hirschhorn syndrome. In the first instance, placental chromosome examination revealed a del(4) (p14), whereas fetal fibroblast chromosomes showed an unbalanced der(4)t(4;13)(p14;q11) translocation. In the second instance, placental karyotyping revealed a 4p+ chromosome, while amniocytes showed a submicroscopic deletion at 4p16.3. Since confirmation of structural aberrations from placental tissue is mostly not sought if the phenotype of the fetus is abnor- mal, discrepancies between karyotypes obtained from placental tissue and amniocytes or fetal tissues might be more frequent than the rare reports published so far would suggest. It is unclear whether the simple deletion or the more complex rearrangement is the primary aberration from which the other derived. Structural chromosome aberrations often have a much more complex mechanism of formation than the end product would suggest, and secondary rearrangements of a given aberration in the zygote are more frequent than expected.     

Statistically Estimated Free Energies of Chromosome Aberration Production from Frequency Data

Janardan and Schaeffer (1977) suggested that the Lagrangian Poisson Distribution (LPD) could be used to estimate the net free energy for the production of induced chromosome aberrations. Using a Markov-chain model, a formal link between the LPD and the thermodynamic free energy is now provided. It is estimated that the free energy required to produce isochromatid breaks or dicentrics is about 3.67 KJ/mole/aberration and 18.4 KJ/mole, in good agreement with free energy estimates on the formation of DNA.     

Effect of fetal calf serum on the cadmium clastogenicity

Inconsistent results among reports on cadmium genotoxicity revealed that certain confounding factors might significantly influence the outcomes of assessment. In Chinese hamster ovary (CHO-W8) cells, chromosome aberration induced by six different cadmium compounds was found positively associated with intracellular cadmium concentration. A parallel association was also observed among different CHO strains treated with same cadmium compound, the cadmium acetate. Both the cadmium-induced chromosome aberration and cadmium uptake were influenced by the presence of fetal calf serum (FCS). The presence of 10% FCS during the 2 h treatment period greatly retarded the cellular cadmium uptake, and concurrently reduced the chromosome aberration induction. Other factors such as specific cadmium anion involved and the duration of cadmium treatment period in the investigation also influenced the assessment results of cadmium-induced chromosome aberration. In the protocol with a 2 h pulse treatment, cadmium acetate, chloride and sulfate induced more chromosome aberration than cadmium nitrate, carbonate and oxide. When cadmium was present in the culture of the entire treatment period for 18 h, the results went the opposite way. Cadmium nitrate, carbonate and oxide induced significant chromosome aberration, while other three cadmium compounds gave negative results. Cadmium compounds did not induce significant SCE at the same dose level that yielded significant chromosome aberration induction, either in the protocol with the short pulse or long treatment period.