Jubair Suzanne, N Al-Rubae'i Salwa H, M Al-Sharifi Ali N, Jabbar Suleiman Ahmed Abdul
Department of Pharmaceutical Chemistry, College of Pharmacy, University of Kerbala, Kerbala, Iraq.
Department of Chemistry, College of Science, Mustansiriyah University, Baghdad, Iraq.
Middle East Afr J Ophthalmol. 2020 Jan 29;26(4):203-209. doi: 10.4103/meajo.MEAJO_116_19. eCollection 2019 Oct-Dec.
Primary congenital glaucoma (PCG) is a severe type of glaucoma that occurs early in life. PCG is usually inherited in an autosomal recessive pattern. Cytochrome P450, family 1, subfamily B, polypeptide 1 () gene is reported to be PCG-related gene. It codes for the CYP1B1 enzyme which is considered as phase I xenobiotic-metabolizing enzyme and its function is related to the eye oxidative homeostasis and correspondingly to the normal development of the eye. This is the first genetic study in Iraq that investigates the polymorphisms behind the PCG disease.
Genomic DNA was extracted from the whole blood of 100 unrelated Iraqi PCG patients and 100 healthy children, all of them were aged between 1 month and 3 years. All the coding sequence of gene was amplified using polymerase chain reaction; restriction fragment length polymorphism was used to follow G61E and E229K mutations. Direct sequencing was performed to screen for other mutations.
mutations were identified in 78 (78%) of the patients. We detected a total of eight mutations: Four missense mutations (c.182G>A, c.685G>A, g.6813G>A, and g.6705G>A), one silence mutation (D449D) and three insertions (g.10068ins10069, g.10138ins10139, and g.10191ins10192). Five mutations (g.6813G>A, g.6705G>A, g.10068ins10069, g.10138ins10139, and g.10191ins10192) are novel. G61E is the only mutation that was detected in patients merely.
mutation (G61E) is considered as PCG-related allele in the Iraqi population.
原发性先天性青光眼（PCG）是一种在生命早期出现的严重青光眼类型。PCG通常以常染色体隐性模式遗传。据报道，细胞色素P450家族1亚家族B多肽1（）基因是与PCG相关的基因。它编码CYP1B1酶，该酶被认为是I相异生物代谢酶，其功能与眼部氧化稳态相关，进而与眼睛的正常发育相关。这是伊拉克第一项研究PCG疾病背后多态性的基因研究。
从100名无亲缘关系的伊拉克PCG患者和100名健康儿童的全血中提取基因组DNA，他们的年龄均在1个月至3岁之间。使用聚合酶链反应扩增基因的所有编码序列；采用限制性片段长度多态性来追踪G61E和E229K突变。进行直接测序以筛选其他突变。
在78名（78%）患者中鉴定出突变。共检测到8种突变：4种错义突变（c.182G>A、c.685G>A、g.6813G>A和g.6705G>A）、1种沉默突变（D449D）和3种插入突变（g.10068ins10069、g.10138ins10139和g.10191ins10192）。5种突变（g.6813G>A、g.6705G>A、g.10068ins10069、g.10138ins10139和g.10191ins10192）是新发现的。G61E是仅在患者中检测到的唯一突变。
突变（G61E）在伊拉克人群中被认为是与PCG相关的等位基因。
