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Kaur, Avneet, Vanita, Vanita, Singh, JaiRup. (1397). Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients. , 7(4), 181-186. doi: 10.22099/mbrc.2018.30630.1344
Avneet Kaur; Vanita Vanita; JaiRup Singh. "Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients". , 7, 4, 1397, 181-186. doi: 10.22099/mbrc.2018.30630.1344
Kaur, Avneet, Vanita, Vanita, Singh, JaiRup. (1397). 'Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients', , 7(4), pp. 181-186. doi: 10.22099/mbrc.2018.30630.1344
Kaur, Avneet, Vanita, Vanita, Singh, JaiRup. Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients. , 1397; 7(4): 181-186. doi: 10.22099/mbrc.2018.30630.1344

Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients

Molecular Biology Research Communications
مقاله 4، دوره 7، شماره 4، 2018، صفحه 181-186    اصل مقاله (75.64 K)
نوع مقاله: Original article
شناسه دیجیتال (DOI): 10.22099/mbrc.2018.30630.1344
نویسندگان
Avneet Kaur* 1؛ Vanita Vanita2؛ JaiRup Singh2
1Department of Biotechnology, GGDSD College, Sector-32C, Chandigarh (UT) India-160030
2Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, India
چکیده
In India, mutations in Cytochrome P450 (CYP1B1) 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 CYP1B1 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.
کلیدواژه‌ها
North Indian؛ POAG؛ p.Arg368His؛ CYP1B1
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