丝烈霉素C诱发小白鼠骨髓细胞姐妹染色单体互换和染色体畸变

丝裂霉素C(MMc)诱导的姐妹染色单体互换(SCE)可反映出细胞DMA损伤修复的基本过程。有关MMC诱发活体的SCE研究不多。本实验目的,就是探讨MMC诱发小白鼠骨髓细胞SCE的剂量—效应关系,并对SCE指标与染色体畸变指标,在检测机体DNA损伤上的差异作一比较研究。结果证明,MMC诱发染色体畸变能办远低于诱发SCE的能力,MMC可诱发小白鼠骨髓细胞SCE产生,SCE值随MMC剂量的增加而增加。SCE即使在低剂量诱变剂的作用下也是敏感的。     

人精子染色体改良技术及其应用

课题研究提供了改良的人精子染色体直接制备，Ｇ显带核分析技术。在对８０例对象的人精子染色体直接制备，Ｇ显带核型分析中，成功率为６２．５％，较Ｔｅｍｐｌａｄｏ方法的成功率（５８．１％）进一步提高。通过对正常人，不育，流产对象的男性精子染色体研究，发现精子染色体数目和结构畸变率分别为：正常人２．３％和０％，不育１４．０％和４．８％，流产组４．５％和２．４％，不育和流产组的畸变率较正常人增加。在对５例染色     

Cytogenetic characterization of ten cases of Ph1-positive acute myelogenous leukemia

Chromosome banding analyses were made on 10 cases of Ph1-positive AML (7 M1 and 3 M2). The standard type Ph1 translocation, t(9q +;22q -), was identified in all of them. Karyotypically normal cells were observed in 6-65% of bone marrow metaphases at the initial cytogenetic examination of 7 patients, whereas the remaining 3 patients had only Ph1-positive cells at diagnosis. Follow-up studies performed in 5 cases indicated that the frequency of karyotypically normal cells increased up to 81-100% when the patients were in remission, whereas it was much reduced in relapse. In 5 cases, there was observed a clone of cells in which the Ph1 translocation was the sole karyotypic abnormality. Various types of other chromosome abnormalities, in addition to the Ph1, were observed in all cases, among which-7 was the most frequent, being found in three cases as a stem line. Other additional changes encountered were + Ph1, del(5), i(17q), - 10, + 18, + X, and various numerical and structural changes including certain secondary translocations that occurred in the Ph1 (22q -) or its partner (9q +). The types and frequencies of these additional changes appeared to be different from those found in the acute phase of CML or in Ph1-positive ALL.     

120例精子发生障碍的遗传缺陷研究

目的探讨无精子症,严重少精子症和少、弱精子症患者的遗传缺陷与男性不育的关系。方法采用外周血染色体核型分析技术和Y染色体基因微缺失检测方法,对120例无精子症,严重少精子症和少弱精子的患者进行了遗传咨询。结果在被筛查患者中发现异常染色体核型13例,异常核型发生率为10.83%;而其Y染色体微缺失检测中存在AZFc/SPGY基因缺失31例,缺失率25.83%。结论染色体核型异常和Y染色体微缺失与精子生成障碍有直接逻辑关系。Y染色体AZFc/SPGY区域的微缺失是中国男性不育的重要原因,因此,中国男性不育症患者有必要进行Y染色体AZFc/SPGY微缺失的常规筛查。     

Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-β III receptor gene

We found 11 single nucleotide polymorphisms and one triple nucleotide insertion in the cDNA of the human transforming growth factor β (TGF-β) III receptor gene (TGFBR3) located on 1p33–p32, encoding betaglycan, a component of the TGF-β receptor system. Inside the 5′ untranslated region (UTR), a G→A polymorphism was identified at position 311. In the open reading frame (ORF), a non-conservative T→C polymorphism was identified at position 392, and three conservative polymorphisms were found at positions 563 (G→A), 1548 (G→A), and 2370 (C→T). A triple nucleotide insertion (GCA) was identified at position 1419. Inside the 3′ UTR, six polymorphisms were identified: four G→A, at positions 2918, 3055, 3098, and 3355; one T→A, at position 3183; and one G→C, at position 3966. In addition to these changes, some divergences from the published sequence were observed in all 12 chromosomes tested. These included, in the ORF, an additional C after position 555, two additional G after position 563, and an additional T after position 1388. No T was found at position 1394. The alterations translate to a changed amino acid sequence. Inside the 3′ UTR, additional discrepancies were identified. The discovered changes and polymorphisms may be useful for further genetic studies of TGFBR3 receptor deficiencies. Received: December 22, 1999 / Accepted: February 25, 2000     

86例脐血染色体核型分析

目的 总结脐血梁色体异常的类型。方法 对86例有产前诊断指征的孕妇,在妊娠19-35w时,行脐带穿刺术抽取脐血进行染色体核型分析。结果 染色体异常核型6例,检出率为6.98％;其中21三体3例,18三体1例,染色体变异2例。结论 染色体三体,尤其是21三体为最主要的胎儿染色体异常核型,而通过产前筛查、产前诊断的方法可以有效降低先天性缺陷患儿出生。     

Klinefelter综合征患者和双亲对诱变剂敏感性研究

为了解诱变剂对Ｋｌｉｎｅｆｅｌｔｅｒ综合征发生的影响，对Ｋｌｉｎｅｆｅｌｔｅｒ综合征患者，患者双亲及对照进行丝裂霉素Ｃ，乙醛或乙醇诱导非二倍体，染色体结构畸变及微核观察，发现丝裂霉素Ｃ诱导的患者当色体结构畸变和微核均显著多于对照和双亲，乙醛和乙醇能诱导非二倍体和微核增加，但患者和双亲增加的程度极显著高于对照，提示Ｋｌｉｎｅｆｅｌｔｅｒ综合征患者对于丝裂霉素Ｃ，乙醛和乙醇诱导染色体畸变更敏感。双亲对     

Transformation of the oomycete pathogen Phytophthora megasperma f. sp. glycinea occurs by DNA integration into single or multiple chromosomes

A procedure for stable transformation was developed for Phytophthora megasperma f. sp. glycinea, an oomycete pathogen of soybean. Transformants were obtained using a bacterial hygromycin resistance gene fused to a promoter and terminator from the ham34 gene of another oomycete, Bremia lactucae. Vector DNA, alone or complexed to cationic liposomes, was introduced into protoplasts using polyethylene glycol and CaCl₂. DNA and RNA hybridization, and phosphotransferase assays, confirmed the presence and expression of vector DNA in the transformants. Hybridization to electrophoretically separated chromosomes of P. m. glycinea showed that vector DNA had integrated into only one chromosome in four transformants, and into multiple chromosomes in one transformant.     

20q13.2 Amplification in intraductal hyperplasia adjacent to in situ and invasive ductal carcinoma of the breast

The 20q13 region harboring recently described putative oncogenes is frequently amplified in invasive ductal carcinoma (IDC). The aim of this study was to examine the 20q13 copy number in intraduct hyperplasia (IH), atypical duct hyperplasia (ADH), and ductal carcinoma in situ (DCIS) adjacent to IDC. In 5 patients, comparative genomic hybridization (CGH) after laser microdissection revealed 20q13 amplification in four of five cases of IH, in all of three cases of IH with atypia, all five of DCIS, and all five of IDC. Fluorescence in situ hybridization (FISH) confirmed the amplification at 20q13.2 in IH in the two specimens analyzed. The amplification rate, however, was higher in DCIS and IDC. In phenotypically normal ductal epithelium normal values were found for 20q13 copy number by FISH (n=2) and CGH (n=5). Although the number of cases presented here is small, our results suggest that mutations in the 20q13.2 region in IH may be associated with accelerated proliferation and hyperplasia of the ductal epithelium. Progression to DCIS and ICD is accompanied by a further increase in the 20q13.2 copy number. Received: 17 March 1999 / Accepted: 22 June 1999     

Establishment and Characterization of Cell Lines from Human Adenovirus Type 12-induced Murine Tumors Producing Endogenous Virus Particles

Two cell lines designated IC KMS and D KMS were established from human adenovirus type 12 induced tumors of C3Hf/OK mouse. The cell lines retained the characteristics of the original tumor i.e., production of numerous C type and intracisternal A-type particles, integration of Adl2 El region DNA and amplification of the myc gene family. Chromosomal analysis revealed chromosome aberrations in both IC KMS and D KMS cells. The modal chromosome number of IC KMS cells was 54 and that of D-KMS cells was 48. Metacentric chromosomes and mini-chromosomes were found. Trisomy of chromosome 3, 7 and 12 was seen frequently in D KMS cells. Although DNA aneuploidy was revealed by flow cytometry, the DNA indices of these cells showed no relation to the copy number of integrated Adl2 DNA. These cells have been propagated by serial culture during the past 17 months. Production of endogenous virus particles is a unique characteristic of IC KMS and D KMS cells. These cell lines would be useful materials for examining the contribution of Adl2 carcinogenesis to activation of endogenous virus particles, and also the correlation between Adl2 carcinogenesis and cancer related genes. Acta Pathol Jpn 42: 242-248, 1992.