摘要
Purpose:To investigate the frequency of common pathogenic primary mitochondrial DNA mutations in Leber's hereditary optic neuropathy(LHON)families.Methods:Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)and DNA sequencing were used to detect mitochondrial DNA mutations.Sixty-six Chinese examiners from 15 families,including 22 visual affected and their 44 unaffected maternal relatives,underwent molecular genetic evaluation.Eleven normal individuals underwent evaluation as control.Results:Of the 15 families with suspicion of LHON,13 had nucleotide position(nt)G11778A mutations,2 had nt T14484C mutations.All examiners had nt G11719A mutation.Conclusions:The mutations at nucleotides 11778 and 14484 are primary LHON mutations.Molecular genetic findings suggest that the silent mutation at nt G11719A may be a common genetic polymorphism in Chinese.
Purpose: To investigate the frequency of common pathogenic primary mitochondrialDNA mutations in Leber's hereditary optic neuropathy (LHON) families.Methods: Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and DNA sequencing were used to detect mitochondrial DNA mutations.Sixty-six Chinese examiners from 15 families, including 22 visual affected and their 44unaffected maternal relatives, underwent molecular genetic evaluation. Eleven normalindividuals underwent evaluation as control.Results: Of the 15 families with suspicion of LHON, 13 had nucleotide position (nt)G11778A mutations, 2 had nt T14484C mutations. All examiners had nt G11719Amutations.Conclusions: The mutations at nucleotides 11778 and 14484 are primary LHONmutations. Molecular genetic findings suggest that the silent mutation at nt Gl 1719A maybe a common genetic polymorphism in Chinese. Eye Science 2002; 18: 147 - 150.
出处
《眼科学报》
2002年第3期147-155,共9页
Eye Science
基金
This work was supported by grants from Fujian province(nature science 98Z-172)
Fujian Medical University 2002M004,People's Republic of China
