原发性先天性青光眼患者CYP1B1突变的研究

CYP1B1 gene research of primary congenital glaucoma

目的:了解原发性先天性青光眼患者致病基因CYP1B1(Cytochrome P450 family 1 subfamily B polypeptide 1)的变异情况。方法:采用高分辨率熔解(high-resolution melting,HRM)方法,分析20例原发性先天性青光眼患者的CYP1B1基因热点突变区,同时采用测序的方法验证HRM的检测结果。结果:检出g.6767C>T(p.D449D)变异2例,g.2527C>G(p.R48G)变异1例,两种变异共存者1例。结论:在CYP1B1基因突变筛查方法中,HRM具有高度的灵敏性和特异性,可用于筛查原发性先天性青光眼。PCG的原因可能与g.6767C>T(p.D449D)和g.2527C>G(p.R48G)的变异有关;两种变异共存者可能导致更严重的PCG。

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.