Leber遗传性视神经病5家系遗传分析

Genetic Analysis of 5 Pedigrees with Leber's Hereditary Optic Neuropathy

目的了解LHON家系遗传特点与规律。方法调查5个LHON家系,分析该病的发生率、患者发病年龄、性别比例。结果5个家系的母系成员共82人,发病31人,发病率25.2%,男女比例20∶11,平均发病年龄29.8岁,5个家系母系成员的发病率随着世代的增加而呈递减趋势,并发现4个家系呈遗传早现现象。结论LHON男性发病率高于女性,其遗传规律符合线粒体遗传的基本特点并存在遗传早现现象。

Objective To observe the genetic characters and rules in LHON pedigrees. Methods Studying the frequency of patients, the age of onset and the gender proportion of the patients in five LHON pedigrees. Resuits There were 82 maternal members in five LHON pedigrees and the number of patients was 31 , the frequency of patients was 25.2% , the proportion of male and female was 20 ： 11, the average age of onset was 29.8. The frequency of patients in maternal members of five LHON pedigrees decreased with the addition of generation and the age of onset was younger than that of parental generation in four LHON pedigrees. Conclusion The frequency of male patients is higher than that of female. LHON genetic rule accords with the basic characters of mitochondrial heredity and there is anticipation in LHON.