【摘要】 目的　探讨线粒体ＤＮＡ（ｍ ｔＤＮＡ）１１７７８、３４６０、１４４８４位点突变与遗传性视神经病（Ｌｅｂｅｒ′ｓｈｅｒｅｄｉｔａｒｙ ｏｐｔｉｃ ｎｅｕｒｏｐａｔｈｙ，Ｌｅｂｅｒ病）之间的关系。　方法　应用多聚酶链式反应－单链构象多态性分析（ＰＣＲ－ＳＳＣＰ）检测临床一对可疑Ｌｅｂｅｒ病同卵双生子患者及其亲属，有突变者，对突变序列进行序列测定。　结果　ＰＣＲ－ＳＳＣＰ检测同卵双生子及母亲１１７７８、３４６０位点所在的ＤＮＡ区段存在突变，１４４８４ 位点所在的ＤＮＡ区段均未检出突变，将１１７７８位点所在ＤＮＡ区段克隆后测序显示１１７７８位点仍为ＣＧＣ，但发现一个新的突变位点（１１９１５Ｔ→Ａ）。　结论　Ｌｅｂｅｒ病发病机制为ｍ ｔＤＮＡ点突变。多位点突变也被看作为Ｌｅｂｅｒ病的病因。１１９１５位点可能也是多位点突变之一。可用ＰＣＲ－ＳＳＣＰ对临床有视神经萎缩和视神经炎可疑为Ｌｅｂｅｒ病患者（包括家系成员）做出遗传性视神经病的基因诊断。更多还原

【Abstract】 Objective To investigate the relationship between mitochondrial DNA 11778、3460 and 14484 point mutations and clinical characteristics of patients with Leber′s hereditary optic neuropathy. Methods PCR SSCP and direct mutation sequencing were used to detect mitochondrial DNA 11778、3460 and 14484 mutation in monozygotic twins suspected of Leber′s diseases and their relatives. Results PCR SSCP showed the monozygotic twin patients and their mother had point mutation at mtDNA 11778 and 3460,but there was no mutation at 14484.DNA sequencing showed 11915 locus had a T→A nucleotide mutation. Conclusions Leber′s disease results from point mutation in mitochondrial DNA.Multi point mutations which may include 11915 were also related to Leber′s disease.PCR SSCP can be used in patients who have optic neuropathy and are suspected of Leber′s disease for gene diagnosis.更多还原