荧光原位杂交技术产前诊断一例45,X

孕妇女,29岁,干部,身体状况一般.无急、慢性传染病史,非近亲婚配.因产前检查发现胎儿发育与孕月不符,羊水少,即行B超检查,提示:胎儿皮下组织增厚,四肢水肿.追问病史,既往曾在载波室工作,孕前已离开原工作单位约1年.夫妇均无放射及病毒接触史,其丈夫为机关干部,身体健康.对孕妇进行血生化检查,排除了Rh阴性及ABO血型不符.细胞遗传学检查:对孕妇及其丈夫外周血作常规培养,G显带计数中期细胞分裂相各30个,结果夫妇双方核型正常;羊水及脐血常规培养,G显带核型分析50个分裂相,核型为45,X.用X着丝粒探针对(地高辛间接标记DNA特异性探针)染色体非整倍体进行荧光原位杂交检测(fluorescence in situ hybridization, FISH),发现染色体X着丝粒上和间期细胞核中均显示1个黄绿色杂交信号(图1).

复合荧光原位杂交和光谱核型分析进展

用染色体核型分析进行细胞遗传学检查,因其实用性和准确性,很快成为染色体异常的常规筛选检查.但是由于核型分析并不能完全适应复杂核型分析的需要,特别对于一些实体瘤组织,不仅染色体改变复杂,而且难以制备有一定质量的中期染色体分裂相,因此,更难以用传统核型分析得到准确结果.荧光原位杂交(fluorescence in situ hybridization,FISH)由于其高度敏感性和特异性,已成为另一有力的细胞遗传学研究工具,并与核型分析互相补充联合应用[1].

荧光原位杂交在膀胱癌诊断中的应用进展

膀胱癌是泌尿系常见的恶性肿瘤之一,其发病率和死亡率呈逐年上升趋势[1].多数膀胱癌恶性程度高、术后易复发,导致治疗效果差和预后不良[2].因此,提高膀胱癌早期诊断和监测复发是急需解决的问题.膀胱镜检查和尿脱落细胞分析是目前膀胱癌诊断和复发监测的主要方法.膀胱镜检查的创伤性与尿脱落细胞分析低敏感度不能满足早期诊断和监测复发的需要.研究表明染色体畸变存在于膀胱癌发生、发展过程中,荧光原位杂交( Fluorescence in situ hybridization,FISH)技术是近年来研究染色体数目和结构畸变的方法,也是肿瘤早期诊断与复发监测研究的热点[3]本文就FISH技术、膀胱癌的遗传学改变及FISH在膀胱癌诊断中的应用进行综述.

Objective: To analyze the expression of procollagen gene in fracture callus, and to search for the technique of in situ hybridization for undecalcified skeletal tissue.Methods: In situ hybridization of procollagen gene expression was performed on the undecalcified cryosections of rat fracture callus at 7, 14, and 28 d.Results: The hybridization signals achieved were clear and easy to be localized with high specificity. On the 7th day, the expressions of pro α1 ( Ⅲ ) in fibroblasts and some chondrocyte-like cells were dominant; and at the end of second week high expression of type-Ⅱ procollagen mRNA was observed in chondrocytes. At the end of fourth week, the cartilaginous callus was almost all replaced by woven bone tissue, and some type-Ⅰ procollagen mRNA positive osteoblasts and hypertrophic chondrocytes were found scattering in the woven bone and remnants of cartiiaginous callus.Conclusions: The modified method employed in this study is easier, quicker, and more sensitive with high specificity than the conventional technique for in situ hybridization of procollagen gene expression of decalcified rat fracture callus. The phenomenon of shared phenotype expression, which was demonstrated among cells engaged in fracture healing, indicates an important approach to reveal the meehantsm of the origin, differentiation, and orientation of cells.