外周血中单个细胞染色体畸变的遗传学分析

目的对外周血中单个细胞染色体畸变的畸变类型及其临床表现进行遗传学分析。方法采用外周血常规培养法,培养72h后收获制片,G显带,读片及染色体核型分析,以每30~100个分裂相中找到1个异常染色体核型作为单个细胞染色体畸变的诊断标准。结果13例外周血单个细胞染色体畸变的畸变类型可分为平衡易位、倒位、缺失、重复及X染色体单体等,主要临床表现包括性发育异常、死胎流产及肢体畸形等。结论在遗传咨询中,对单个细胞染色体畸变的临床意义不可忽视,具有这种异常的个体生育后代时应做产前诊断。     

亚急性放射病2例临床报告

目的报道2名儿童意外受192Ir迁延照射数月的诊治经过。方法 依据临床表现,生物、物理剂量估算及化验检查,综合分析明确诊断。加强对症、支持治疗,全面检查各项相关指标。结果经多单位估算,病例“A”相当于一次受照剂量1．48～2．2Gy,病例“B”相当于一次受照剂量0．66—1．08Gy,均存在稳定性畸变和非稳定性畸变。经过综合治疗后病情平稳。结论 两例均明确诊断为亚急性放射病,各项指标均提示需密切关注其潜在的远后效应。     

应用比较基因组杂交技术研究外阴鳞癌组织的遗传变异

背景与目的:外阴鳞状细胞癌约占女性外阴恶性肿瘤的80%～90%.但有关其遗传学研究却不多,本研究采用比较基因组杂交(comparative genomichybridization,CGH)技术分析外阴鳞癌组织的遗传变异,了解其遗传改变的特征.以期发现外阴鳞癌相关基因.方法:应用CGH技术检测21例外阴鳞癌基因组的不平衡性即其DNA的扩增或丢失.结果:外阴鳞癌常见的扩增染色体是3q,8q,12q.常见的丢失染色体是4p和3p.结论:外阴鳞癌细胞中存在多条染色体拷贝数的改变,由此引起相应癌基因的扩增和抑癌基因的丢失可能参与了外阴鳞癌的发生、发展.     

多重巢式RT-PCR和染色体核型分析技术在急性髓系白血病中的联合应用

背景与目的:细胞遗传学分析在白血病的诊断和预后判断中有重要价值,但常规显带不仅耗时,且难以获得良好的分裂相;而聚合酶链反应具有灵敏、快速的特点.本研究探讨联合应用多重巢式RT-PCR和染色体核型分析,对急性髓系白血病(acute myeloid leukemia,AML)中融合基因的表达及其在各亚型的分布和克隆性染色体异常的检出情况.方法:采用多重巢式RT-PCR技术对60例AML病例进行检测,其中37例同时进行染色体R或G显带.结果:60例AML患者中检出融合基因28例(46.7%),包括AML1/ETO、PML/RARα、CBFβ/MYH11、MLL基因异常(包括MLL/AF6、MLL/AF9、MLL/AF10、MLL/MLL)、DEK/CAN、TEL/PDGFR、AML1/MDS1(EVI-1).同时进行染色体R或G显带的37例病例中有30例可供分析,其中14例(46.7%)检出染色体结构和数目异常;联合多重RT-PCR可使AML克隆性染色体异常检出率增至59.5%(22/37).结论:联合多重巢式RT-PCR和染色体核型分析技术可以提高克隆性染色体异常的检出率.     

纳米载银室温固化PMMA材料对雄性小鼠生殖系统的影响

目的:研究添加2%浓度纳米载银无机抗菌剂的室温固化型聚甲基丙烯酸甲酯(PMMA)材料对雄性小鼠生殖系统的影响。方法:将雄性昆明小鼠随机分组,动物实验模型建立完成后,处死。计算小鼠体重增长率、睾丸脏器系数,观察睾丸组织的病理学改变,进行精子活动率检测、计数和畸形率计算。采用初级精母细胞染色体畸变实验和精原细胞姊妹染色单体互换(SCE)实验检测实验材料对小鼠初级精母细胞及精原细胞染色体的影响。结果:添加2%浓度纳米载银室温固化PMMA材料对小鼠体重增长率、睾丸脏器系数以及精子计数、活动率和畸形率均无显著性影响,各实验组睾丸组织病理切片与阴性对照组无明显差异。添加2%浓度纳米载银室温固化PMMA材料对小鼠的初级精母细胞染色体无致畸变作用;各实验组精原细胞SCE率与阴性组无显著性差异。结论:添加2%浓度纳米载银室温固化PMMA材料对雄性小鼠生殖系统无显著影响。     

Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

BACKGROUND: This study analyses the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques. METHODS: Prior to receiving either IVF or ICSI treatment, each partner of 2078 infertile couples was screened for karyotype changes by GTG-banding technique on peripheral lymphocytes. No subject presented with obvious phenotype of chromosomal rearrangement. All the oligo/azoospermic men with normal karyotype were further investigated by PCR for Yq11 microdeletions. RESULTS: Eighty-two out of 2078 couples (3.95%) had one partner carrying a chromosomal change, and 10 out of 202 (4.95%) men showed Yq11 microdeletions. The chromosomal rearrangements were 44 (2.1%) translocations, 23 (1.1%) gonosomal mosaics, six (0.3%) 47,XXY, five (0.24%) marker chromosomes, three (0.14%) inversions and one (0.05%) duplication. Frequency of anomalies in men and women were similar: 42 and 40 cases respectively. CONCLUSIONS: Partners of infertile couples requiring IVF or ICSI treatment appear to be affected by higher frequency of chromosomal rearrangements than the general population. Categories with greater risk were represented by men with sperm cell count <20 x 10(6) sperm/ml, and women with history of pregnancy loss.     

Personalized aspheric intraocular lens implantation based on corneal spherical aberration: a review

With the evolution of cataract surgery from visual rehabilitation to refractive surgery, aspheric intraocular lenses (IOLs) are being increasingly used in the field of ophthalmology. This increased use can be attributed to negative or zero spherical aberrations with unique optical designs, which counteract some of the positive spherical aberrations of the cornea. These alterations reduce the total spherical aberration of human eyes and improve the visual acuity in patients with cataract postoperatively. At present, various types of aspheric IOLs are used worldwide. Although the implantation of aspheric IOL is beneficial to the patients who need correction of spherical aberrations, much controversy is still associated with ocular residual spherical aberrations that facilitate the best visual quality for patients postoperatively. In order to provide reference for future clinical work and scientific research, this report reviews the relationship between the ocular residual spherical aberration of human eyes and visual quality.     

喉癌原代培养细胞及Hep-2细胞系染色体畸变研究

目的探索原发性喉鳞状细胞癌及喉癌Hep-2细胞系的特征性染色体异常，认识喉癌的细胞遗传学改变与其发病机理的相关性。方法对喉癌手术新鲜标本进行改良的原代细胞培养，G显带后核型分析；应用高分辨染色体分析法对喉癌Hep-2细胞系进行核型分析；应用6号染色体涂染探针对原发性喉癌及喉癌细胞系进行分子细胞遗传学研究。结果4例原发性喉癌原代培养细胞中，1例是四倍体范围，3例是三倍体范围。Hep-2细胞系染色体众数为68～75条，出现15条可识别的标记染色体。原发性喉癌及喉癌细胞系中染色体结构异常多为末端缺失、等臂染色体和不平衡易位，而且均存在复杂的6号染色体畸变。结论6q-，i（5p），17p-，5q-可能是人类喉鳞状细胞癌特征性染色体改变；荧光原位杂交法（fluorescence in situ hybridization，FISH）可以探求常规显带方法难以确认的复杂易位和标记染色体来源，为进一步确定喉癌特征性染色体畸变提供有价值的依据。     

69,XXY伴严重生长迟缓及眼球突出病例的产前诊断

目的分析孕中期血清筛查数据和胎儿彩色多普勒与染色体异常之间的关系。方法对一孕中期血清产前筛查18三体风险1:10,血清Free-hCGβ异常减低(值为1.29ng/ml即0.08MOM),胎儿系统结构检查提示胎儿小于孕周,头腹围比(1.63)大于正常(1.25),上唇连续性中断延至鼻底的孕妇进行羊膜腔穿刺,抽取羊水进行细胞遗传学检查。结果羊水细胞染色体核型:69,XXY。结论中孕期妇女血清Free-hCGβ异常减低和胎儿头胸围发育不同步、胎儿唇腭裂提示胎儿染色体畸变可能,血清和超声联合筛查有助于染色体疾病的检出。     

Interlaboratory assessment of mitotic index by flow cytometry confirms superior reproducibility relative to microscopic scoring

A flow cytometric procedure for determining mitotic index (MI) as part of the metaphase chromosome aberrations assay, developed and utilized routinely at Pfizer as part of their standard assay design, has been adopted successfully by Covance laboratories. This method, using antibodies against phosphorylated histone tails (H3PS10) and nucleic acid stain, has been evaluated by the two independent test sites and compared to manual scoring. Primary human lymphocytes were treated with cyclophosphamide, mitomycin C, benzo(a)pyrene, and etoposide at concentrations inducing dose‐dependent cytotoxicity. Deming regression analysis indicates that the results generated via flow cytometry (FCM) were more consistent between sites than those generated via microscopy. Further analysis using the Bland–Altman modification of the Tukey mean difference method supports this finding, as the standard deviations (SDs) of differences in MI generated by FCM were less than half of those generated manually. Decreases in scoring variability owing to the objective nature of FCM, and the greater number of cells analyzed, make FCM a superior method for MI determination. In addition, the FCM method has proven to be transferable and easily integrated into standard genetic toxicology laboratory operations. Environ. Mol. Mutagen. 2012. © 2012 Wiley Periodicals, Inc.