基因剪接是通过一些酶学操作使一条DNA分子与另一条DNA分子相连。即在mRNA成熟期，切除基因的内含子，连接基因的外显子的过程，称为基因剪接。而天然基因的某些片段被合成的DNA链所取代或连成整体的过程称为基因剪辑。一个基因为它的等位基因所替换，而其他基因则保持不变称为基因置换。
基因工程，或“基因剪接，”也许是最热、最精彩的现代医药课题。
Genetic engineering, or "gene splicing," is probably the hottest and most fascinating subject in modern medicine.
真核基因剪接位点是真核细胞生物基因序列中外显子和内含子的相邻区域。
The splice sites of the eukaryotic DNA are the region of the vicinity in the exons and introns of the DNA sequences of the eukaryotic cell biology.
结论COL7A1基因剪接位点的突变是引起该家系临床症状的特异突变，而非多态性改变。
Conclusions The splicing mutation of COL7A1 gene is the underlying cause of and specific rather than common polymorphism for the family with dystrophic epidermolysis bullosa pruriginosa subtype.
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