[关键词]
[摘要]
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。
[Key word]
[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.
[中图分类号]
[基金项目]
广东省医学科研基金立项资助项目(No. A2014567)
