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用聚合酶链反应－单链构象多态（ＰＣＲ－ＳＳＣＰ）联合序列分析，对视网膜母细胞瘤肿瘤组织ＲＢ１基因存在状态进行检测。对ＲＢ１基因全部２７个外显子分别进行ＰＣＲ扩增后，选用适当的限制性核酸内切酶将扩增产物切割成２００ｂｐ左右的片段，加热至双链解离后，６％聚丙烯酰胺凝胶电泳。电泳后对有异常电泳迁移率条带所属标本的同一外显子行ＰＣＲ扩增、序列分析，进一步证实突变的位置和类型。本研究发现包括点突变、缺失、插入等ＲＢｌ基因改变，显示Ｐａｉｔ－ＳＳＣＰ联合序列分析在已知序列基因突变检测中的敏感性和可靠性。
The presence of RB1 gene in retinoblastoma tissues was detected by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with sequence analysis. PCR amplification of all 27 exons of RB1 gene was carried out, the appropriate restriction endonuclease was used to cut the amplified product into about 200bp fragments, heated to double-stranded dissociation, 6% polyacrylamide gel Gel electrophoresis. After electrophoresis, the same exon with abnormal electrophoretic mobility shift belongs to the same exon PCR amplification, sequence analysis, to further confirm the location and type of mutation. This study found that including point mutations, deletions, insertions and other RB1 gene changes, showing Pait-SSCP combined sequence analysis of known sequence mutations in the detection of the sensitivity and reliability.