中国麻风皮肤病杂志
中國痳風皮膚病雜誌
중국마풍피부병잡지
CHINA JOURNAL OF LEPROSY AND SKIN DISEASES
2014年
8期
467-469
,共3页
张岩%陈明飞%吴梅%亓兴亮%刘红%田洪青%张福仁
張巖%陳明飛%吳梅%亓興亮%劉紅%田洪青%張福仁
장암%진명비%오매%기흥량%류홍%전홍청%장복인
点状掌跖角化病%AAGAB 基因%基因突变
點狀掌蹠角化病%AAGAB 基因%基因突變
점상장척각화병%AAGAB 기인%기인돌변
punctuate palmoplantar keratoderma%AAGAB gene%mutations
目的：检测点状掌跖角化病家系中 AAGAB 基因的突变。方法：分别对来自3个家系的3例患者应用聚合酶链反应(PCR)扩增外周血基因组 AAGAB 基因的10个外显子及邻近内含子区域，对其产物直接测序和序列分析。结果：3例患者的 AAGAB 基因编码区均未发现突变位点。结论：AAGAB 基因与本研究中的点状掌跖角化病患者发病无关联，提示可能存在其它致病基因。
目的：檢測點狀掌蹠角化病傢繫中 AAGAB 基因的突變。方法：分彆對來自3箇傢繫的3例患者應用聚閤酶鏈反應(PCR)擴增外週血基因組 AAGAB 基因的10箇外顯子及鄰近內含子區域，對其產物直接測序和序列分析。結果：3例患者的 AAGAB 基因編碼區均未髮現突變位點。結論：AAGAB 基因與本研究中的點狀掌蹠角化病患者髮病無關聯，提示可能存在其它緻病基因。
목적：검측점상장척각화병가계중 AAGAB 기인적돌변。방법：분별대래자3개가계적3례환자응용취합매련반응(PCR)확증외주혈기인조 AAGAB 기인적10개외현자급린근내함자구역，대기산물직접측서화서렬분석。결과：3례환자적 AAGAB 기인편마구균미발현돌변위점。결론：AAGAB 기인여본연구중적점상장척각화병환자발병무관련，제시가능존재기타치병기인。
Objective: To identify mutations of AAGAB gene with punctuate palmoplantar keratoderma in Chinese patients. Methods: All ten exons and their flanking intronic sequence of AAGAB gene were amplified by polymerase chain reaction,and then,subjected to automatic DNA sequencing. Results: The pathogenic mu-tation was not found in all exons and their flanking intronic sequences of AAGAB gene. Conclusion: The mu-tation which causes PPPK in the three families is not located in the exons of AAGAB gene. Further study is needed to identify the causative gene.
