Kaur Avneet, Vanita Vanita, Singh JaiRup
Department of Biotechnology, GGDSD College, Sector-32C, Chandigarh (UT) India-160030.
Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, India.
Mol Biol Res Commun. 2018 Dec;7(4):181-186. doi: 10.22099/mbrc.2018.30630.1344.
In India, mutations in Cytochrome P450 () are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was isolated from the blood and screened for p.Arg368His mutation in CYP1B1 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). On PCR-RFLP, 10/100 cases (10%) were found positive for Arg368His mutation. In North Indian POAG cases studied, p.Arg368His mutation was found only in heterozygous state. The frequency of p.Arg368His mutation in heterozygote state (10.0%) observed in our study in North Indian POAG patients is the highest in comparison to frequency observed in other ethnic groups from Southern and Eastern India.
在印度，细胞色素P450（）的突变不仅是原发性先天性青光眼（PCG）的主要病因，还与原发性开角型青光眼（POAG）和青少年型青光眼（JOAG）有关。经过伦理审批后，本研究招募了100例POAG患者、30例原发性闭角型青光眼（PACG）患者以及130例种族匹配的对照者。从血液中提取基因组DNA，并通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术筛查CYP1B1基因中的p.Arg368His突变。在PCR-RFLP检测中，100例病例中有10例（10%）被发现存在Arg368His突变阳性。在对北印度POAG病例的研究中，p.Arg368His突变仅在杂合状态下被发现。与印度南部和东部其他种族群体中观察到的频率相比，我们在北印度POAG患者研究中观察到的杂合状态下p.Arg368His突变频率（10.0%）是最高的。
