单发性与多发性瘢痕疙瘩转化生长因子-β1Ⅱ型受体Poly A位点基因突变研究

目的 检测瘢痕疙瘩组织转化生长因子-β1 Ⅱ型受体（transforming growth factor-β1 receptorⅡ，TβR Ⅱ）PolyA位点基因突变情况，探讨单发性与多发性瘢痕疙瘩发病机制差异。方法 瘢痕疙瘩标本20例，单发性14例，多发性6例，提取组织中DNA；在TβR Ⅱ基因PolyA位点两侧设计并合成引物，利用PCR仪扩增-TβRⅡ DNA；对PCR产物进行单链构象多态性分析（PCR—SSCP）；PCR产物纯化后，利用自动测序仪鉴定基因突变的类型。结果 瘢痕疙瘩组织中TβR ⅡR PolyA位点表现出基因缺失突变，其阳性率多发性瘢痕疙瘩为50％（3／6），单发性瘢痕疙瘩为7．1％（1／14），二者差异有统计学意义（P〈0．05）。结论 多发性与单发性瘢痕疙瘩发病机制可能不同。

Study on Poly A site gene mutation of transforming growth factor-β1 receptor type Ⅱ between multiple and single site keloid

OBJECTIVE: To investigate the pathogenesy deference between multiple and single site keloid by detecting gene mutation of Poly A site of transforming growth factor-beta1 receptor type II (TbetaR II). METHODS: Collecting 20 keloid samples (6 multiple sites keloid samples and 14 single site keloid samples) and extracting DNA from them; designing and synthesizing the primers of Poly A site, then amplifying T1beta II DNA by PCR, analyzing the single strand conformation polymorphism about the products of PCR. After purifying the product of PCR, the site and type of the mutation rate of Poly A site was sequenced directly on the automatic sequencing equipment. RESULTS: It had been found that the Poly A site of TbetaR II in keloid has deletion mutation, its mutation rate in multiple sites keloid was 50% (3/6), in single site keloid 7.1% (1/14). The mutation rate of Poly A site in multiple sites keloid was significant higher than that in single site keloid (P < 0.05) CONCLUSION: It has been supposed that there are some deference in pathogenesy between the multiple and the single site keloid.