应用染色体涂染技术分析两例染色体结构异常  

Analysis of the Structure of Abnormal Karyotypes by Using Chromosome Painting

作　　者：谭跃球[1] 李麓芸[1] 朱亚辉 卢光琇[1] 

机构地区：[1]湖南医科大学人类生殖工程研究室,长沙410078

出　　处：《遗传》2000年第1期1-3,共3页Hereditas（Beijing)

摘　　要：为了确定两例细胞遗传学提示染色体结构异常的核型 ,应用通过显微切割技术构建的人类18号和7号染色体探针池 ,分别对这两例病例的中期分裂相进行染色体涂染 ,结合显带染色体 ,确定两者核型分别为46,XY,t(3;18)(q12;q21)和46,XX,dirins(1;7)(p3104;q34q36)。染色体涂染技术是染色体显带技术的重要补充和发展 ,为染色体结构异常提供了一种直观、准确的检测手段 ,在遗传咨询和产前诊断方面有重要作用。In this study, chromosome painting technique was performed to analyse the abnormal karyotypes of two carriers. Chromosome 18 and 7 specific libraries, which were generated by chromosome microdissection technique, were used as probe pools to hybridize the carriers' metaphase chromosomes respectively. Unlabled human genomic DNA was used to inhibit the hybridization of sequences in the library that bind to mutiple chromosomes. Structure abnormality was detected clearly in metaphase. Combined with the banding chromosomes, we concluded that their karytypes were 46, XY, t (3; 18) (q12; q21) and 46, XX, dir ins (1; 7)(p3104; q34q36). Chromosome painting, as a direct and concise method in analysing chromosome structure abnormality, is an important complement and development of chromosome banding technique,and has important application in genetic counselling and prenatal diagnosis.

关 键 词：染色体涂染 探针池 染色体结构异常 

分 类 号：Q343[生物学—遗传学]