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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.
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. 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.