Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 397-400, 2007.
Article
in Zh
| WPRIM
| ID: wpr-247308
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the effect of secondary mutations on Leber's hereditary optic neuropathy (LHON).</p><p><b>METHODS</b>Three primary and 24 secondary mutations were identified in 4 Chinese families which included male offspring.</p><p><b>RESULTS</b>All of the four pedigrees carried classic LHON mutations at nucleotide (nt) 11778, and did not carry any point of 24 secondary mutations. Nevertheless many polymorphic points were found in the nearby fragments of these pedigrees, such as 5178, 5108, 3705, 3721, 13734, etc.</p><p><b>CONCLUSION</b>Male offspring sequences should be analyzed in pedigrees with LHON to avoid the influence of familial inheritance characteristic which mitochondrial DNA polymorphism carried. Existence of the "repair genes" may affect the development of LHON.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Polymorphism, Genetic
/
DNA, Mitochondrial
/
DNA Mutational Analysis
/
Chemistry
/
Optic Atrophies, Hereditary
/
Polymerase Chain Reaction
/
Genetics
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2007
Type:
Article