摘要
目的对Leber遗传性视神经病一家系进行线粒体DNA基因突变检测,并探讨其临床特点。方法完成家系调查和系谱分析,收集家系成员的临床资料,并进行眼科专科检查(视力、视野和眼底检查)。利用聚合酶链式反应及DNA测序方法对线粒体DNA三个原发突变位点G3460A、G11778A和T14484C进行突变检测。结果该家系表现为典型的母系遗传特征。突变检测结果提示:先证者及家系患者均存在线粒体DNA的G11778A原发突变位点,该位点突变后导致ND4基因第340位氨基酸由精氨酸变为组氨酸。在家系健康成员及100名健康对照中均未发现该突变位点。此外,在先证者及患者中进行3460和14484原发突变位点检测时未发现突变。结论该家系先证者及患者中均发现线粒体DNA的G11778A原发突变位点。结合临床特征及基因突变检测结果,该家系可明确诊断为Leber遗传性视神经病。
Objective To make genetic diagnose in a matrilineal inherited family of Leber＇s hereditary optic neuropathy （LHON）, and discuss the clinical characteristics.Methods Family investigation and pedigree analysis were performed in this family. ND1, ND4 and ND6 gene of mitochondrial DNA （mtDNA） were detected by combining polymerase chain reaction with DNA direct sequencing.Results The family was characterized as matrilineal inheritance. Mutation detection of mtDNA showed that a primary mtDNA mutation （G11778A） was found in the proband and family patients, which resulted in the 340th amino acid of ND4 gene change from Arginine to Histidine. There was no change for this site in healthy family members and control populations. In addition, there was no mutation for the other two primary mutations （G3460A and T14484C） in the two proband and family patients. Conclusion The mutation of G11778A is found in the proband and family patients. According to clinical features and the result of mutation detection, this family is diagnosed as Leber＇s hereditary optic neuropathy.
出处
《中华临床医师杂志（电子版）》
CAS
2014年第17期49-52,共4页
Chinese Journal of Clinicians(Electronic Edition)
