Genetic Analysis of 5 Pedigrees with Leber's Hereditary Optic Neuropathy
Hui Chen
Abstract
Hui Chen
Abstract
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.Results 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.
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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.Results 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.
Key concepts: Pedigree chart, Leber's hereditary optic neuropathy, Heredity, Anticipation (artificial intelligence), Medicine, Age of onset, Genetics, Ophthalmology