中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
2期
199-202
,共4页
王婷婷%陈森清%张晓梅%尚俊清%周欣%李金田%周建农
王婷婷%陳森清%張曉梅%尚俊清%週訢%李金田%週建農
왕정정%진삼청%장효매%상준청%주흔%리금전%주건농
家族性腺瘤性息肉病%结肠腺瘤性息肉病基因%胚系突变
傢族性腺瘤性息肉病%結腸腺瘤性息肉病基因%胚繫突變
가족성선류성식육병%결장선류성식육병기인%배계돌변
familial adenomatons polyposis%adenomatous pelypesis coli gene%gemdine mutation
目的 探讨中国人家族性腺瘤性息肉病(familial adenomatous polyposis,FAr)患者的结肠腺瘤性息肉病(adenomatous polyposis coli,APC)基因的胚系突变类型.方法 对9个FAP家系18名成员进行多重连接依赖性探针扩增(multiplex ligation-dependent probe amplification,MLPA)检测APC基因有无大片段缺失.再应用PCR扩增APC基因的15个外显子区域,经变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC)对每个扩增片段进行筛查,流出峰异常的片段,经DNA测序验证小片段的改变.结果 9个家系中有3个家系发现有APC基因的胚系突变:家系2为c.3184-3187 del CAhA,家系4为c.5432C＞T,家系9为c.3925-3929 del AAAAG.3种突变中c.5432C＞T在数据库中未见报道.结论 中国人不同的APC基因的胚系突变可引起FAP;无APC胚系突变的FAP患者的发病可能存在其他的机制.
目的 探討中國人傢族性腺瘤性息肉病(familial adenomatous polyposis,FAr)患者的結腸腺瘤性息肉病(adenomatous polyposis coli,APC)基因的胚繫突變類型.方法 對9箇FAP傢繫18名成員進行多重連接依賴性探針擴增(multiplex ligation-dependent probe amplification,MLPA)檢測APC基因有無大片段缺失.再應用PCR擴增APC基因的15箇外顯子區域,經變性高效液相色譜(denaturing high performance liquid chromatography,DHPLC)對每箇擴增片段進行篩查,流齣峰異常的片段,經DNA測序驗證小片段的改變.結果 9箇傢繫中有3箇傢繫髮現有APC基因的胚繫突變:傢繫2為c.3184-3187 del CAhA,傢繫4為c.5432C＞T,傢繫9為c.3925-3929 del AAAAG.3種突變中c.5432C＞T在數據庫中未見報道.結論 中國人不同的APC基因的胚繫突變可引起FAP;無APC胚繫突變的FAP患者的髮病可能存在其他的機製.
목적 탐토중국인가족성선류성식육병(familial adenomatous polyposis,FAr)환자적결장선류성식육병(adenomatous polyposis coli,APC)기인적배계돌변류형.방법 대9개FAP가계18명성원진행다중련접의뢰성탐침확증(multiplex ligation-dependent probe amplification,MLPA)검측APC기인유무대편단결실.재응용PCR확증APC기인적15개외현자구역,경변성고효액상색보(denaturing high performance liquid chromatography,DHPLC)대매개확증편단진행사사,류출봉이상적편단,경DNA측서험증소편단적개변.결과 9개가계중유3개가계발현유APC기인적배계돌변:가계2위c.3184-3187 del CAhA,가계4위c.5432C＞T,가계9위c.3925-3929 del AAAAG.3충돌변중c.5432C＞T재수거고중미견보도.결론 중국인불동적APC기인적배계돌변가인기FAP;무APC배계돌변적FAP환자적발병가능존재기타적궤제.
Objective To explore the characteristics of adenomatous polyposis coli(APC)gene germline mutations in Chinese patients with familial adenomatous polyposis(FAP).Methods Eighteen members from nine FAP pedigrees were studied by using multiplex ligation-dependent probe amplification(MLPA)to detect large fragment deletion of APC gene.Then,PCR were performed to amplify all exons of APC gene for mutation screening by denaturing high performance liquid chromatography(DHPLC).When abnormal elution profile of DHPLC was found,DNA sequencing was performed to determine the mutations.Results Mutations were identified in three pedigrees among the nine pedigrees.They were c.3184_3187 del CAAA in pedigree 2,c.5432C＞T in pedigree 4 and c.3925_3929 del AAAAG in pedigree 9 respectively.Among them,c.5432C＞T was novel.Conclusion APC gene germline mutations can cause the development of FAP.The FAP patients without APC gene germline mutations could be caused by other mechanisms.
