Abstract:AIM: To investigate the genetic variation of CYP1B1(Cytochrome P450 family 1 subfamily B polypeptide 1)gene in Primary Congenital Glaucoma(PCG)patients.
METHODS: CYP1B1 gene hot mutation area were screened in 20 PCG patients using high resolution melting(HRM)method. The result was verified by direct sequencing.
RESULTS: Mutations variation g.6767C>T(p.D449D)was detected in 2 PCG patients and g.2527C>G(p.R48G)was found in 1 patient. The two mutations ware detected from 1 patient, simultaneously.
CONCLUSION: HRM can be used for screening PCG patients with high sensitive and high specific.The variation of g.6767C>T(p.D449D)and g.2527C>G(p.R48G)may cause PCG, and two kinds of mutations may lead to more serious PCG.
