小鼠SRS-82细胞系和SAC-ⅡB_2、SAC一ⅡC_3克隆细胞株的染色体组型比较

本文研究结果表明,SRS-82细胞系的干系细胞染色体数是43,SAC-IIB_2细胞株的染色体数为多倍体,分布在75～91之间,SAC-IIC_3的干系细胞染色体数是41。三种细胞中均可看到A、B和M三种标记染色体,三种细胞的G显带核型也有差异。     

Pleural mesothelioma: An approach to diagnostic problems

Abstract In the 1960s, a close relationship between heavy exposures to crocidolite asbestos and mesothelioma was established. The debate on the diagnosis of mesothelioma became complicated because of the possibility of litigation. Well differentiated mesothelioma cells are mucicarmine negative but alcian blue and periodic acid–Schiff (PAS) positive, which are removed by hyaluronidase and diastase digestion. By electron microscopy (EM), they show bush-like elongated, slender, and branching microvilli. By immunohistochemistry they express both keratin and vimentin but not carcinoembryonic antigenicity (CEA), B72.3, Ber–EP4, and Leu-M1. In poorly differentiated mesotheliomas, chromosomal and molecular biological alterations are common and complex but these alterations also overlap with that of poorly differentiated tumours of the lung and other organs. A poorly differentiated pleural tumour is most likely metastatic and needs good team work to locate the primary site. The diagnosis of a mesothelioma and asbestosis should be established separately. Future studies will be focused less on the phenotypic differences but more on the broad molecular and multi-phasic mechanisms of carcinogenesis, irrespective of the aetiological agents, in poorly differentiated tumours.     

辐射诱发胸腺淋巴瘤中包含易位的染色体畸变

为了研究包含易位的染色体畸变在辐射诱发淋巴瘤过程中的作用，作者分析了供体型Ｔ淋巴瘤细胞的染色体Ｇ带核型。结果观察到，在供体派生的Ｔ细胞淋巴瘤中，有许多数目和结构畸变。有意义的是：几乎在每组淋巴瘤中都发现了含有易位的共同畸变。如：Ｄ组中１１号和１２号染色体的易位；Ｅ组中１２号和１５号钵体的易位；Ａ组和Ｆ组中还有共同的１５号染色体三体。这些结果表明：包含易位的染色体畸变在辐射诱发淋巴瘤过程中可能是重要     

Satellited 4q identified in amniotic fluid cells

Extra material was identified on the distal long arm of a chromosome 4 in an amniotic fluid specimen sampled at 16.6 weeks of gestational age. There was no visible loss of material from chromosome 4, and no evidence for a balanced rearrangement. The primary counseling issue in this case was advanced maternal age. Ultrasound findings were normal, and family history was unremarkable. The identical 4qs chromosome was observed in cells from a paternal peripheral blood specimen and appeared to be an unbalanced rearrangement. This extra material was NOR positive in lymphocytes from the father, but was negative in the fetal amniocytes. Father's relatives were studied to verify the familial origin of this anomaly. In situ hybridization with both exon and intron sequences of ribosomal DNA demonstrated that ribosomal DNA is present at the terminus of the 4qs chromosome in the fetus, father, and paternal grandmother. This satellited 4q might have been derived from a translocation event that resulted in very little or no loss from the 4q and no specific phenotype. This derivative chromosome 4 has been inherited through at least 3 generations of phenotypically normal individuals. © 1995 Wiley-Liss, Inc.     

Prenatal diagnosis of a stable de novo centric fission: A case report

We report on the prenatal diagnosis of a baby with a de novo centromeric fission of chromosome 21. Both fission products were mitotically stable. Follow-up chromosome analysis after birth confirmed the centromere fission. This chromosome fission appears to be without clinical significance for this patient. © 1995 Wiley-Liss, Inc.     

Gene expression profiles in squamous cell cervical carcinoma using array-based comparative genomic hybridization analysis

Our aim was to identify novel genomic regions of interest and provide highly dynamic range information on correlation between squamous cell cervical carcinoma and its related gene expression patterns by a genome-wide array-based comparative genomic hybridization (array-CGH). We analyzed 15 cases of cervical cancer from KangNam St Mary's Hospital of the Catholic University of Korea. Microdissection assay was performed to obtain DNA samples from paraffin-embedded cervical tissues of cancer as well as of the adjacent normal tissues. The bacterial artificial chromosome (BAC) array used in this study consisted of 1440 human BACs and the space among the clones was 2.08 Mb. All the 15 cases of cervical cancer showed the differential changes of the cervical cancer-associated genetic alterations. The analysis limit of average gains and losses was 53%. A significant positive correlation was found in 8q24.3, 1p36.32, 3q27.1, 7p21.1, 11q13.1, and 3p14.2 changes through the cervical carcinogenesis. The regions of high level of gain were 1p36.33-1p36.32, 8q24.3, 16p13.3, 1p36.33, 3q27.1, and 7p21.1. And the regions of homozygous loss were 2q12.1, 22q11.21, 3p14.2, 6q24.3, 7p15.2, and 11q25. In the high level of gain regions, GSDMDC1, RECQL4, TP73, ABCF3, ALG3, HDAC9, ESRRA, and RPS6KA4 were significantly correlated with cervical cancer. The genes encoded by frequently lost clones were PTPRG, GRM7, ZDHHC3, EXOSC7, LRP1B, and NR3C2. Therefore, array-CGH analyses showed that specific genomic alterations were maintained in cervical cancer that were critical to the malignant phenotype and may give a chance to find out possible target genes present in the gained or lost clones.     

Y染色体微缺失与男性不育相关

目的：探讨Y染色体微缺失原因不明性无精症、少精症所致男性不育的相关性。方法；特发性少精症18例、特发性严重少精症12例，特发性无精症5例及正常已生育健康男性10例作为研究对象和正常对照，应用多重PCR技术，对精液基因组DNA进入Y染色体上连续的18个序列标记位点检测。结果：少精症18例中发现Y染色体微缺失2例，严重少精症12例中发现Y染色体微缺失3例，无精症5例和正常已生育男性10例均末发现Y染色体微缺失，缺失形式3种。结论：Y染色体微缺失与精子发生障碍相关。     

Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I

Reciprocal translocation t(11;22)(q23;q11) is of particular interest because the unbalanced offspring of the translocation carriers usually present with a supernumerary derivative chromosome 22. This common unbalanced karyotype is the result of 3:1 chromosome segregation during meiosis. We report the third case of a rare segregation pattern of a paternal 11; 22 translocation. The proband's karyotype revealed the presence of a der(11) and two copies of a der(22), i.e. 47, XX, t(11; 22)(q23;q11), +der(22) t(11;22)pat. The karyotype is the result of paternal 3:1 segregation after crossing-over involving the derived and the normal chromosome 22, as revealed by chromosome polymorphism analysis. Contrary to the preferential maternal transmission of this common unbalanced translocation, the data from the literature, including our case, may suggest preferential paternal transmission of this rare type of unbalanced translocation.     

Use of acetylcholine (Ach) for spreading metaphase chromosomes and application to the cytogenetic analysis of human stomach cancers

Cytogenetic studies of biopsy specimens endoscopically obtained from gastric cancers were performed in our laboratory. The necessity for well-spread chromosomes for analysis has resulted in the development of a new technique, in which culture medium containing acetylcholine (Ach) is used; with this new technique, the number of metaphases of analyzable karyotypes was significantly increased (P<0.01 compared with a previous method in which Ach was not used). The mean ratio of metaphase numbers of analyzable karyotypes in four cases in which Ach was used was 38.1±8.1%, a value more than four times the number in the seven cases in which Ach was not used. It is possible that Ach may decrease the viscosity of the cytoplasm in gastric cancer cells by disrupting microfilaments.