Mitani I, Miyazaki S, Hayashi T, Fukidome Y, Shimo-oku M
Department of Ophthalmology, Hyogo College of Medicine, Nishinomiya, Japan.
Acta Ophthalmol Scand. 1998 Feb;76(1):14-9. doi: 10.1034/j.1600-0420.1998.760104.x.
We evaluated the availability of archival histopathological preparations for genetic diagnosis of Leber hereditary optic neuropathy (LHON).
Preparations of various tissues of an autopsied case of LHON, and of the optochiasmal arachnoidea of nine cases of bilateral optic neuropathy (BON) were studied to determine the presence of a point mutation of the mitochondrial DNA nucleotide (nt) 11778 using PCR method.
An nt11778 point mutation was detected in all preparations of the autopsied case. Five preparations out of six BON cases who were diagnosed as LHON based on positive family history, revealed this point mutation. This mutation was also detected in two of three BON patients with no family history of the disease.
The archival preparations were found to be available as materials of genetic diagnosis for LHON, which indicated that it would be capable to reevaluate retrospectively the pedigree of LHON and BON cases.
我们评估了存档的组织病理学标本用于Leber遗传性视神经病变（LHON）基因诊断的可行性。
研究了1例LHON尸检病例的各种组织标本，以及9例双侧视神经病变（BON）病例的视交叉蛛网膜标本，采用聚合酶链反应（PCR）方法确定线粒体DNA核苷酸（nt）11778是否存在点突变。
在尸检病例的所有标本中均检测到nt11778点突变。6例基于阳性家族史被诊断为LHON的BON病例中，有5例标本检测到该点突变。在3例无该病家族史的BON患者中，有2例也检测到了该突变。
发现存档标本可作为LHON基因诊断的材料，这表明能够对LHON和BON病例的家系进行回顾性重新评估。
