Analysis of the Structure of Abuormal Karyotypes by Using Chromosome Painting
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

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.