中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
6期
612-615
,共4页
刘霞%夏莉%汪京峡%郝雁杰%杨晶%柳凤琴%郭睿
劉霞%夏莉%汪京峽%郝雁傑%楊晶%柳鳳琴%郭睿
류하%하리%왕경협%학안걸%양정%류봉금%곽예
伴有色素沉着的单纯型大疱性表皮松解症%角蛋白5基因%角蛋白14基因%基因突变
伴有色素沉著的單純型大皰性錶皮鬆解癥%角蛋白5基因%角蛋白14基因%基因突變
반유색소침착적단순형대포성표피송해증%각단백5기인%각단백14기인%기인돌변
epidermolysis bullosa simplex with mottled pigmentation%keration 5 gene%keratin 14gene%gene mutation
目的 检测宁夏地区一伴有色素沉着的单纯型大疱性表皮松解症家系的角蛋白5(keratin 5,K5)和角蛋白14 (keratin 14,K14)基因突变.方法 提取患者及对照组的外周血DNA,采用聚合酶链反应对K5和K14基因的全部外显子进行扩增,并进行DNA测序.结果 在测序的11例患者中,发现K5的1个错义突变(237C＞T),而在家系正常人及100名正常对照中均未发现该突变.结论 K5基因的错义突变可能与该家系患者的发病有关.
目的 檢測寧夏地區一伴有色素沉著的單純型大皰性錶皮鬆解癥傢繫的角蛋白5(keratin 5,K5)和角蛋白14 (keratin 14,K14)基因突變.方法 提取患者及對照組的外週血DNA,採用聚閤酶鏈反應對K5和K14基因的全部外顯子進行擴增,併進行DNA測序.結果 在測序的11例患者中,髮現K5的1箇錯義突變(237C＞T),而在傢繫正常人及100名正常對照中均未髮現該突變.結論 K5基因的錯義突變可能與該傢繫患者的髮病有關.
목적 검측저하지구일반유색소침착적단순형대포성표피송해증가계적각단백5(keratin 5,K5)화각단백14 (keratin 14,K14)기인돌변.방법 제취환자급대조조적외주혈DNA,채용취합매련반응대K5화K14기인적전부외현자진행확증,병진행DNA측서.결과 재측서적11례환자중,발현K5적1개착의돌변(237C＞T),이재가계정상인급100명정상대조중균미발현해돌변.결론 K5기인적착의돌변가능여해가계환자적발병유관.
Objective To identify keratin 5 (K5)and keratin 14 (K14)gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation. Methods Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls.All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.Results By DNA sequence analysis,a missense mutation inK5 gene (c.237C＞T) was detected.The same mutation was not found in non-affected members from the family and normal controls.Conclusion Mutation in K5 gene (c.237C＞T) may be responsible for the development of disease in this family.
