小说细胞色素P450 1 b1 (CYP1B1)突变患者原发性先天性青光眼在法国。
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Colomb E,卡普兰J, Garchon HJ
小说细胞色素P450 1 b1 (CYP1B1)突变患者原发性先天性青光眼在法国。
哼Mutat。2003年12月,22 (6):496。
- PubMed ID
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14635112 (在PubMed]
- 文摘
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CYP1B1基因(基因银行:U56438),细胞色素P450基因家族的一员,已被证明是突变患者原发性先天性青光眼(PCG),一种罕见但严重致盲的青光眼。在这里,我们调查了CYP1B1基因突变在31个法国PCG患者无关。15例(48%)患者的突变被发现。6这些突变的小说。1,g。3979,造成移码在剩余59,后跟一个终止密码子。两个突变,g。4547 c > T (p.Q248X)和g。8167 c > T (p.R444X),创建了一个终止密码子。其他三个突变,g。4499 g > C (p.G232R), g。8033T>G (p.I399S), (p.N423Y), induced a significant amino acid change. Seven patients, who were of French descent, were compound heterozygotes. Six patients, whose families came from North Africa or from Portugal, carried a homozygous mutation reflecting their geographic origin. Intriguingly, one mutation, p.E229K, was present in heterozygous state in two unrelated patients. All together, these findings demonstrate the major role and the diversity of CYP1B1 mutations in French PCG patients.