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
9期
538-540
,共3页
刘丹%付希安%暴芳芳%史本青%刘红%田洪青%张福仁
劉丹%付希安%暴芳芳%史本青%劉紅%田洪青%張福仁
류단%부희안%폭방방%사본청%류홍%전홍청%장복인
遗传性泛发性色素异常症%ABCB6基因%突变位点
遺傳性汎髮性色素異常癥%ABCB6基因%突變位點
유전성범발성색소이상증%ABCB6기인%돌변위점
dyschromatosis universalis hereditaria%ABCB6 gene%mutations
目的：检测3例遗传性泛发性色素异常症患者ABCB6基因的突变。方法：提取患者外周血DNA，采用PCR扩增患者ABCB6基因的全部外显子及其侧翼序列，对PCR扩增产物直接测序检测基因突变。结果：3例患者该基因编码区所有外显子均未发现突变。结论：本研究中3例遗传性泛发性色素异常症患者的发病与 ABCB6基因的编码区序列无关。
目的：檢測3例遺傳性汎髮性色素異常癥患者ABCB6基因的突變。方法：提取患者外週血DNA，採用PCR擴增患者ABCB6基因的全部外顯子及其側翼序列，對PCR擴增產物直接測序檢測基因突變。結果：3例患者該基因編碼區所有外顯子均未髮現突變。結論：本研究中3例遺傳性汎髮性色素異常癥患者的髮病與 ABCB6基因的編碼區序列無關。
목적：검측3례유전성범발성색소이상증환자ABCB6기인적돌변。방법：제취환자외주혈DNA，채용PCR확증환자ABCB6기인적전부외현자급기측익서렬，대PCR확증산물직접측서검측기인돌변。결과：3례환자해기인편마구소유외현자균미발현돌변。결론：본연구중3례유전성범발성색소이상증환자적발병여 ABCB6기인적편마구서렬무관。
Objective:To identify mutations of ABCB6 gene in three patients with dyschromatosis univers-alis hereditaria. Methods:After extracting DNA from peripheral blood, all the exons of ABCB6 gene and their flanking intronic sequences were amplified by PCR, and then, direct sequencing was performed to screen the mutations in the gene. Results:No mutation was found in any of the exon in ABCB6 gene from the three pa-tients. Conclusion: The pathogenesis of the three patients with dyschromatosis universalis hereditaria has nothing to do with the sequence of coding region in ABCB6 gene.
