Background: Establish a method to identify simultaneously mitochondrial DNA 4401A>G and 4435A>G mutations associated with essential hypertension.
Methods: The whole genomic DNA of samples carrying mitochondrial DNA 4401A>G and 4435A>G mutations, double mutation (mtDNA 4401A>G and 4435A>G) as well as wild type were used as templates. Specifically amplified mtDNA 234 bp fragments between 4344 - 4577 using nested PCR and digested the PCR purified products simultaneously with two restriction enzymes BfaI and NlaIII. The products were identified by polyacrylamide gel electrophoresis.
Results: Electrophoresis results showed that electrophoresis bands were specific among different samples.
Conclusions: This study established a convenient, accurate, and suitable for clinical determination of mtDNA 4401 A>G and 4435A>G mutations associated with essential hypertension testing using the new method.