Nonsyndromic deafness and mitochondrial DNA mutation
2000
Objective:To analysis whether there is any mtDNA 1555 A→G homoplasmic point mutation among familial nonsyndromic deafness.Method:Polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP) were used to screen the mutation 1555 A→G among four nonsyndromic deafness families.Result:The same mutations were checked out in 4 of 5 individuals in 1 of 4 families.Conclusion:The 1555 A→G change on mtDNA might be one of the multiple genetic defects and pathogenetic of familial nonsyndromic deafness.
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