ABSTRACT
Objective To study the MTHFR gene (677 gene loci and 1298 gene loci) mutations in Chinese patients with keloid. Methods The tissue DNA was extracted from 20 samples of keloids. and peripheral blood samples from the same patients were employed as the control. Polymerase chain reaction(PCR) was used to amplify the Mthfr 677 gene loci and Mthfr 1298 gene loci from the keloid tissue DNA and peripheral blood DNA. and the PCR products were sequenced directly and then compared with the GenBank data. Results Mutations were detected in 17 out of 20 keloids on Mthfr 677 gene loci, the mutation incidence was 85.0 %. Mutations were detected in 13 out of 20 keloids on Mthfr 1298 gene loci, and the mutation incidence was 65.0 %. The mutation involved point mutation, deletion and insetion as well as multisite and multitype. No MTHFR gene mutation was detected in all peripheral blood samples . Conclusion There is a strong correlation between the MTHFR gene (677 gene loci and 1298 gene loci) mutation and keloid.