Leber病一家系线粒体DNA突变检测与临床观察  

Clinical and molecular genetic researches of a family with Leber's hereditary optic neuropathy

作　　者：付群[1] 童绎[2] 霍豫星[1] 张向东[1] 

机构地区：[1]新乡医学院第三附属医院眼科 [2]福建医科大学第一附属医院眼科,福州350005 [3]新乡医学院第三附属医院眼科

出　　处：《眼科研究》2008年第8期609-612,共4页Chinese Ophthalmic Research

摘　　要：目的探讨Leber病一家系的临床和分子遗传学特征。方法对Leber病一家系49个成员进行家系调查,分析其遗传特征和临床发病特点,并对家系现存成员进行眼科临床检查(视力、视野、眼底、色觉检查及视觉诱发电位检查),全血滤纸法提取线粒体DNA(mtDNA),应用聚合酶链反应(PCR)技术,分别扩增mtDNA上相应片段检测G3460A、G11778A和T14484C位点突变。结果该家系显示为典型的母系遗传,共18例36眼患病,男11例22眼,女7例14眼。母系亲属mtDNA的G11778A位点突变阳性,3460和14484位点突变阴性。结论该家系为典型的遗传性Leber病家系,mtDNA上G11778A位点突变可导致Leber病的发生,但并不是所有G11778A位点突变者均发生Leber病,也可能成为基因携带者。Objective To investigate the clinical and the molecular genetical characteristic of Leber＇s hereditary optic neuropathy（LHON）in a four-generation family.Methods The 46 members from a four-generation family with LHON（excluding 3 dead members）were investigated in this study.The visual acuity,perimetry,fundus findings under the direct ophthalmoscope,color sensation and visual evoked potentials were examined to analyze the hereditary traits and morbility characteristics of this LHON family.The whole blood sample was extracted for the detection of mitochondrial DNA genes,and the corresponding mtDNA fragments were PCR-amplified to detect the point mutation of the G3460A,G11778A and T14484C,respectively.Results Eighteen families were verified to be LHON cases in this family with 49 members,including 11 male and 7 female patients,and bilaterial eyes were involved in all patients with the visual acuity less 0.5.The family history feature was consistent with a maternal inheritance fashion.The G11778A mutation on mtDNA among the maternal relatives was identified by DNA sequence analysis,but no G3460A and T14484C mutations were detected in all family members.Conclusion This family exhibit a typical clinical feature of LHON.The point mutation of the G11778A on mtDNA may lead to the pathogenesis of LHON on the 4-generation Chinese family.Part of families show G11778A mutation on mtDNA without LHON are the carrier of gene mutation.

关 键 词：Leber’s病 家族遗传性视神经病变 线粒体DNA 聚合酶链式反应 点突变 

分 类 号：R774.6[医药卫生—眼科] R771.3[医药卫生—临床医学]