中国全科医学
中國全科醫學
중국전과의학
Chinese General Practice
2015年
29期
3624-3627
,共4页
李福记%吴华裕%韩焕钦%陈凤平%覃霞%吕宇%林有坤%舒艳%张伟峰%方玲%胡启平%袁志刚%舒伟
李福記%吳華裕%韓煥欽%陳鳳平%覃霞%呂宇%林有坤%舒豔%張偉峰%方玲%鬍啟平%袁誌剛%舒偉
리복기%오화유%한환흠%진봉평%담하%려우%림유곤%서염%장위봉%방령%호계평%원지강%서위
衰老,过早%早老症%DNA,线粒体%D - loop 区%突变
衰老,過早%早老癥%DNA,線粒體%D - loop 區%突變
쇠로,과조%조로증%DNA,선립체%D - loop 구%돌변
Aging,premature%Hutchinson - Gilford progeria syndrome%DNA,mitochondrial%D - loop%Mutation
目的：探讨广西汉族1个早老症家系中3例儿童早老症（HGPS）患者线粒体 DNA D -环区（D - loop区）突变是否呈现年龄相关的突变累积。方法采用聚合酶链反应（PCR）对3例 HGPS 患者及其父母、8例正常老人（正常老人组）的线粒体 DNA D - loop 区进行扩增、测序。结果正常老年人线粒体 DNA D - loop 区较 Cambridge 序列存在较多的突变位点，HGPS 患者与正常老人组线粒体 DNA D - loop 区突变率差异具有统计学意义（ P ﹤0.05）；3例HGPS 患者线粒体 DNA D - loop 区单体型与其母亲一致；未检测到3例 HGPS 患者线粒体 DNA D - loop 区发生新突变，也未检测到3例 HGPS 患者线粒体 DNA D - loop 区存在差异。结论该家系3例 HGPS 患者在7岁前未发生线粒体DNA D - loop 突变累积，且不同年龄患者均未见年龄相关的突变累积，推论线粒体 DNA 突变不是该家系 HGPS 患者加速衰老的重要原因。
目的：探討廣西漢族1箇早老癥傢繫中3例兒童早老癥（HGPS）患者線粒體 DNA D -環區（D - loop區）突變是否呈現年齡相關的突變纍積。方法採用聚閤酶鏈反應（PCR）對3例 HGPS 患者及其父母、8例正常老人（正常老人組）的線粒體 DNA D - loop 區進行擴增、測序。結果正常老年人線粒體 DNA D - loop 區較 Cambridge 序列存在較多的突變位點，HGPS 患者與正常老人組線粒體 DNA D - loop 區突變率差異具有統計學意義（ P ﹤0.05）；3例HGPS 患者線粒體 DNA D - loop 區單體型與其母親一緻；未檢測到3例 HGPS 患者線粒體 DNA D - loop 區髮生新突變，也未檢測到3例 HGPS 患者線粒體 DNA D - loop 區存在差異。結論該傢繫3例 HGPS 患者在7歲前未髮生線粒體DNA D - loop 突變纍積，且不同年齡患者均未見年齡相關的突變纍積，推論線粒體 DNA 突變不是該傢繫 HGPS 患者加速衰老的重要原因。
목적：탐토엄서한족1개조로증가계중3례인동조로증（HGPS）환자선립체 DNA D -배구（D - loop구）돌변시부정현년령상관적돌변루적。방법채용취합매련반응（PCR）대3례 HGPS 환자급기부모、8례정상노인（정상노인조）적선립체 DNA D - loop 구진행확증、측서。결과정상노년인선립체 DNA D - loop 구교 Cambridge 서렬존재교다적돌변위점，HGPS 환자여정상노인조선립체 DNA D - loop 구돌변솔차이구유통계학의의（ P ﹤0.05）；3례HGPS 환자선립체 DNA D - loop 구단체형여기모친일치；미검측도3례 HGPS 환자선립체 DNA D - loop 구발생신돌변，야미검측도3례 HGPS 환자선립체 DNA D - loop 구존재차이。결론해가계3례 HGPS 환자재7세전미발생선립체DNA D - loop 돌변루적，차불동년령환자균미견년령상관적돌변루적，추론선립체 DNA 돌변불시해가계 HGPS 환자가속쇠로적중요원인。
Objective To investigate whether age - related mutation accumulation occurs in the mitochondrial DNA (mtDNA)D - loop region of three cases with Hutchinson - Gilford progeria syndrome( HGPS)in a Guangxi Han family. Methods Polymerase chain reaction(PCR)was used to amplify the mtDNA D - loop region of the three HGPS cases and their parents,as well as 8 normal seniors,and all the PCR products were sequenced and analyzed. Results The normal elders had more mutation sites in the mtDNA D - loop region compared with Cambridge standard sequence,and the three HGPS cases and the normal elders were significantly different in the mutation in the mtDNA D - loop region(P ﹤ 0. 05);the three HGPS cases had same haplotype with their mothers;no new mutations were noted in the mtDNA D - loop region of the three HGPS cases,and no differences were observed in the mtDNA D - loop region among the three HGPS cases. Conclusion No mutation accumulation was observed in the mtDNA D - loop region of the three HGPS cases before they turned 7 years old,and no age -related mutation accumulation was found in patients of different age stages. This may lead to a conclusion that mtDNA mutation is not a major reason for the accelerated aging of the three HGPS patients in this family.
