42个携带线粒体基因组A3243G突变核心家系临床表型分析
42개휴대선립체기인조A3243G돌변핵심가계림상표형분석
Analysis of clinical phenotype in 42 nuclear pedigrees carrying mitochondrial DNA A3243G mutation
  • 万方数据
    中华医学杂志 중화의학잡지
    National Medical Journal of China
    2010年 45期 3184-3187 ,共4页

    马祎楠%方方%曹延延%杨艳玲%邹丽萍%张英%王松涛%朱赛楠%李琳%郑雪飞%裴珮%吴海蓉%肖洋%戚豫

    마의남%방방%조연연%양염령%추려평%장영%왕송도%주새남%리림%정설비%배패%오해용%초양%척예

    DNA,线粒体%突变,A3243G%家系 DNA,線粒體%突變,A3243G%傢繫
    DNA,선립체%돌변,A3243G%가계
    DNA,mitochondrial%Mutation,A3243G%Pedigree
    目的 研究携带A3243G突变的家系成员的临床症状特点以及与A3243G突变负荷的关系.方法 收集42个携带A3243G突变的核心家系,对他们的临床表现、实验室检查和线粒体DNA 3243位点点突变检测结果进行分析.结果 (1)肌无力、癫痫发作、多毛、头痛、认知障碍、消瘦和身材矮小是A3243G突变家族中先证者最常见的临床症状,而且这些临床症状多同时存在.在实验室检查中,血乳酸、丙酮酸及MRI检查多有异常;(2)A3243G突变家族中的携带者大多表现正常,肌无力、消瘦和身材矮小是他们最常见的临床症状;(3)在先证者组中,尿液A3243G突变负荷高于血液(t=-15.06,P＜0.001),在先证者母亲组中,尿液A3243G突变负荷也高于血液(z=-6.241,P＜0.001);(4)先证者组血液和尿液中的A3243G突变负荷约是母亲组的2倍.结论 携带A3243G突变患者表型差异很大,先证者组的临床表现和实验室检查结果均较母亲组严重,可能与A3243G突变负荷有一定关系.
    목적 연구휴대A3243G돌변적가계성원적림상증상특점이급여A3243G돌변부하적관계.방법 수집42개휴대A3243G돌변적핵심가계,대타문적림상표현、실험실검사화선립체DNA 3243위점점돌변검측결과진행분석.결과 (1)기무력、전간발작、다모、두통、인지장애、소수화신재왜소시A3243G돌변가족중선증자최상견적림상증상,이차저사림상증상다동시존재.재실험실검사중,혈유산、병동산급MRI검사다유이상;(2)A3243G돌변가족중적휴대자대다표현정상,기무력、소수화신재왜소시타문최상견적림상증상;(3)재선증자조중,뇨액A3243G돌변부하고우혈액(t=-15.06,P＜0.001),재선증자모친조중,뇨액A3243G돌변부하야고우혈액(z=-6.241,P＜0.001);(4)선증자조혈액화뇨액중적A3243G돌변부하약시모친조적2배.결론 휴대A3243G돌변환자표형차이흔대,선증자조적림상표현화실험실검사결과균교모친조엄중,가능여A3243G돌변부하유일정관계.
    Objective A3243G mutation in mitochondrial DNA is the most common pathogenic point mutation causing a variety of phenotypes.The clinical phenotype and the relationship between the clinical phenotype and the ratio of A3243G mutation were studied in the members from nuclear families carrying A3243G mutation.Methods A total of 42 families carrying A3243G mutation were recruited and their clinical symptoms,laboratory results and the ratio of A3243G analyzed.Result ( 1 ) In probands,myopathy,seizure,hirsutism,headache,cognitive impairment,weight loss and short stature were the most common clinical features.They tended to occur simultaneously.Lactic acid,pyruvate and MRI were abnormal in most probands;( 2 ) most carriers had a normal phenotype.Myopathy,weight loss and short stature were their most common clinical features;(3)the ratio of A3243G mutation in urine was higher than that in blood in probands ( t = - 15.06,P ＜ 0.001 ).And the ratio of A3243G mutation in urine was higher than that in blood in their mothers(z = -6.241,P ＜0.001 );(4) the ratio of A3243G mutation in probands was 2-fold higher than that in their mothers in both blood and urine.Conclusion The phenotype of patients carrying A3243G mutatiom is varied.The clinical symptoms and laboratory results of probands are worse than those of mothers.It is probably due to a higher mutation ratio of m.3243 A ＞ G in their tissues.
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