Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
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DOI：
10.1016/j.ajo.2005.11.001
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发表时间：
2006-03-01
影响因子：
4.2
通讯作者：
Al-Awadi, S
中科院分区：
文献类型：
--
作者：
Alfadhli, S;Behbehani, A;Al-Awadi, S
目的：报道科威特原发性先天性青光眼(PCG)患者的CYP1B1基因突变谱。设计：临床诊断和实验室实验研究。方法：采用聚合酶链式反应、限制性内切酶多态长度片段分析、外显子2和外显子3编码区直接测序的方法，对17例先天性青光眼患者及其家系和105例同民族健康人进行筛查。最常见的一种(47%)是纯合子Gly61Glu突变，以前在沙特阿拉伯、土耳其和摩洛哥描述过；所有患者都是近亲婚姻的产物。第二种常见突变是一种新的错义突变(Ala388Thr)，3例患者(17.6%)为复合杂合子，其中1例为Arg368His杂合子，另1例为Gly61GIu杂合子，而第3例患者中未检测到第二个突变。1例患者(5.8%)为Cyt28OX突变纯合子，此前仅在一个日本家系报道过。除了这些突变外，在3例PCG患者和18例健康志愿者的210条染色体中发现了一个新的Va1422Gly多态位点。结论科威特PCG患者的CYP1B1突变谱与邻国相似。在显示不同类型的CYP1B1突变的患者中，未发现明显的基因-表型相关性。
PURPOSE: To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG).DESIGN: Clinical diagnosis of PCG and laboratory based experimental study.METHODS: Polymerase chain reaction,restriction polymorphism length fragment (PCR,RPLF) and direct sequencing of exon 2 and the coding region of exon 3 of CYP1B1 gene were the methods used for screening 17 PCG patients, their families, and 105 health individuals from the same ethnicity.RESULTS: Four different mutations were detected in CYP1B1 in 70.6% of the screened patients. The most common one (47%) was homozygote Gly61Glu mutation, previously described in Saudi Arabia, Turkey, and Morocco; all patients were products of consanguineous marriages. The second common mutation was a novel missense (Ala388Thr) mutation found in three patients (17.6%) as compound heterozygote with Arg368His in one patient, and with Gly61GIu in another one while the second mutation in third patient was not detected in the CYP1B1 gene. One patient (5.8%) was homozygote for Cyt28OX mutation previously reported in only one Japanese family. In addition to these mutations, a novel Va1422Gly polymorphic site was found in three of the PCG patients and in 18 of the 210 tested chromosomes of healthy volunteers.CONCLUSIONS. The CYP1B1 mutation spectrum of Kuwaiti PCG patients is similar to that detected in the neighboring countries. No clear genotype-phenotype correlation detected in patients showed different types of CYP1B1 mutation.