乳腺癌患者染色体不稳定性及脆性部位的研究

作者对１６例未经放、化疗治疗的乳腺癌患者外周血淋巴细胞染色体畸变率及脆性部位进行观察分析。结果表明，有１８对染色体异常，集中表达在１、３、５、６、９、１０、１７和Ｘ染色体上，其中脆性部位３Ｐ＾１４表达率最高，其次是１Ｐ＾３２、１ｑ＾３２、６Ｐ＾２１较高，染色体畸变率及脆性部位表达率均高于对照组（Ｐ〈０．０１）。     

恶性淋巴瘤患者及其一级亲属染色体不稳定性,脆性部位的研究

采用低叶酸培养基对２４例恶性淋巴瘤患者和２０例患者的一级亲属染色体不稳定性、脆性部位进行研究，发现两组的染色体畸变率和脆性部位表达均显著高于正常对照，并且脆性部位３ｐ~１４、１１ｑ~１３、６ｐ~２２、１２ｑ~１３表达显著增高，提示两组的染色体不稳定性增高及这些特异的脆性部位可能与恶性淋巴瘤遗传易感性有关。     

奋乃静诱发淋巴细胞染色体脆性部位畸变观察

用外周血淋巴细胞培养法，以不同浓度奋乃静处理，检测脆性部位的染色体畸变率。对照组畸变率为６．９％，低浓度组为１６．２％，高浓度组为２７．３％，低浓度组、高浓度组与对照组均有显著统计学差异。表明在体外培养条件下奋乃静可提高脆性部位的染色体畸变率。     

精神发育迟滞者与染色体脆性部位相关性的研究

目的：探讨精神发育迟滞者与染色体畸变率和脆性部位表达率的相关性,方法：采用外周血淋巴细胞染色体制备和脆性技术,对30例精神发育迟滞者和30例正常人的染色体畸变率和脆性部位表达率进行分析。：精神发育迟滞者染色体的畸变率为4．32％,脆性部位的表达率为2．18％,而正常对照组染色体畸变率为1．55％,脆性部位的表达率为0．89％,两者的染色体畸变率和脆性部位表达率有明显的差异（P＜0．01）,结论：提示精神发育迟滞与染色体的畸变率和脆性部位的表达率有一定的相关性。     

妊娠滋养细胞肿瘤患者及治愈后再生育子女外周血染色体脆性部位的研究

对16例未经化疗的GTT患者、15例正常妇女、11例GTT痊愈妇女、14例GTT痊愈妇女再生育子女及12例正常儿童的外周血染色体畸变率及脆性部位进行了观察。结果表明,GTT患者的染色体畸变率、脆性部位表达均明显高于对照组(P<0.01)。化疗痊愈妇女及其子女的染色体畸变和脆性部位表达均与对照组无区别。     

恶性肿瘤患者染色体畸变和脆性部位观察

目的：研究染色体畸变和脆性部位与肿瘤发生的关系。方法：采用低叶酸高ｐＨ 的微量全血培养法,Ｇ显带检测５６ 例恶性肿瘤患者和２５ 例正常人外周血淋巴细胞染色体畸变及脆性部位。结果：恶性肿瘤患者的染色体畸变率和脆性部位的表达率均高于对照组（ Ｐ＜ ０－０１） 。脆性部位的表达是非随时的,且又是非特异的。结论：脆性部位与癌基因、癌断裂点密切相关     

膀胱癌患者手术前后细胞遗传学研究

本实验观察了１４例膀胱移行细胞癌（ＴＣＣ）患者手术前后及１５例正常人外周血淋巴细胞染色体畸变和脆性位点。结果发现，手术前后ＴＣＣ患者的脆性位点表达率、染色体总断裂率均比对照组有显著性增高（Ｐ＜０．０１），而且ＴＣＣ组各脆性位点检出频率显著高于对照组，依次为３ｐ１４、１ｑ２１、５ｑ３１（Ｐ＜０．０１）和１ｐ３２、１１ｑ１３、１７ｑ２１、１３ｑ１３（Ｐ＜０．０５）。作者认为脆性位点表达率可作为膀胱癌的一个易患性指标。     

老年人与青年人染色体脆性位点的比较

作者研究了４５例老年人和２９例青年人外周血淋巴细胞在ＦＵＤＲ和咖啡因诱导下，外周血淋巴细胞染色体的畸变及脆性位占的表达。结果：１．老年组染色体畸变率为２４．７５％，青年组为４．２２％，两者差异显著。２．老年组脆性全点表达率为４５．９３％，青年组为２３．０２％，明显低于老年组；３．染色体断裂点与脆性位点符合率老年组为７９．９８％，青年组为９２％，说明脆性位点与染色体畸变密切相关。     

世界首报6例人类染色体异常核型

目的：本文报道６例世界首报人类染色体异常核型：①４６，ＸＹ，ｔ（１；３）（１ｐ３６；３ｐ２１）；②４６，Ｘ，ｔ（Ｘ；６）（Ｘｐ２２；６ｑ１３）；③４６，ＸＸ，ｔ（５；１２）（５ｑ３１；１２ｑ１３）；④４６，ＸＸ，ｔ（６；１０）（６ｐ１０ｐ；６ｑ１０ｑ）；⑤４５，ｉ（Ｘｑ）／４６，Ｘ，ｉ（Ｘｑ）／４７，ＸＸ，ｉ（Ｘｑ）；⑥４６，ＸＹ，ｄｅｌ（３），ｔ（３；７）（３ｑ２１；７ｑ３３）。就染色体平衡易位患者的表型效应及平衡易位染色体对染色体复合畸变的影响做了初步探讨。方法：细胞遗传学检查由静脉采取外周血，用１６４０培养液，培养淋巴细胞，常规收获细胞、制片，ＧＴＧ显带。镜下计数分析３０个～５０个分裂像，显微摄影分析５个～１０个分裂像，必要时做高分辨及其它带型。结果：６例患者中染色体平衡易位５例、嵌合型Ｘ等臂染色体１例；多次流产２例、连续２次生育巨大畸形儿１例、原发闭经２例、发育过速１例。结论：染色体平衡易位等畸变是造成临床流产、闭经、发育异常、生产畸形儿等疾患的主要原因之一。     

钴源事故受照者染色体畸变观察

对钴源事故的６例受照者脱离钴源５年后，进行外周血淋巴细胞染色体畸变和脆性部位观察。发现受照者染色体变率明显增高，脆部位表达与染色体畸变呈显著正相关。说明６例受照者均表现有辐射所致的遗传物质损伤。     

Cytogenetic studies on peripheral lymphocytes of members from two multiple familial polyposis coli families.

Cytogenetic studies were carried out on peripheral lymphocytes of 30 members from two typical familial polyposis coli (FPC) families. It was found that, under low folic acid culture conditions, the chromosome aberration rate of FPC family members (10%) was much higher than that of the control group (2.3%). No significant difference in SCE was found between the two groups. We suggest that the chromosome aberration rate under certain conditions may be used as a parameter for the early detection of FPC in certain FPC families. The analysis of fragile sites sensitive to low folic acid in FPC family members revealed that besides the significant increase of 3p14, which is frequently seen in tumor patients, other unique sites (1p22, 1p32 and 6q21) were also present in most of the FPC patients. Fragile sites 1p22, 1p32 and 6q21 are located near certain well known oncogene loci; thus, they may have something to do with the pathogenesis of FPC. The actual relationship between these fragile sites and FPC remains to be elucidated.     

咖啡因诱发人类染色体脆性部位的观察

观察了咖啡因对14名个体染色体脆性部位的影响。结果表明咖啡因可显著地提高染色体结构畸变率和染色体脆性部位的表达。对有关的问题进行了论讨。     

老年人与青年人染色体脆性位点的比较

作者研究了４５例老年人和２９例青年人外周血淋巴细胞在ＦＵＤＲ和咖啡因诱导下，外周血淋巴细胞染色体的畸变及脆性位点的表达。结果：①老年组染色体畸变率为２４７５％，青年组为４２２％，两者差异显著（Ｐ＜００１）；②老年组脆性位点表达率为４５９３％，青年组为２３０２％，明显低于老年组（Ｐ＜００１）；③染色体断裂点与脆性位点符合率老年组为７９９８％，青年组为９２％，说明脆性位点与染色体畸变密切相关     

白血病患者染色体脆性部位的研究

采用低叶酸低小牛血清的培养基,对10例白血病患者和9例正常对照的外周血淋巴细胞染色体畸变率和脆性部位进行了研究。结果在实验组中观察910个中期分裂相有118个畸变位点(畸变率为12.97％),显著高于对照组(7.85％)。实验组脆性部位的表达率为8.3％,而对照组为4.88％,二者比较差异亦具有显著意义(x~2=8.34,P<0.01)。提示白血病患者存在着明显的染色体不稳定性。     

Observations of fragile sites in patients with lymphoma and leukemia.

Chromosomal fragile sites analyses were performed in peripheral lymphocytes of 37 patients with lymphoma and 16 patients with leukemia, and also of 50 healthy individuals as controls. The results were: 1) The rates of chromosomal aberration and frequency of expression of fragile sites in patients with lymphoma and leukemia were significantly higher than those of normal controls. 2) There was a statistical association between 21 of 44 fragile sites and specific cancer breakpoints in patients with lymphoma and this was also the case with 19 of 30 fragile sites and specific cancer breakpoints in patients with leukemia. 3) Concordance between fragile sites and location of oncogenes in the diseases was established. The possible important role of fragile sites in the pathogenesis of lymphoma and leukemia is discussed.