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Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma
  1. Bo Gong1,2,3,
  2. Chao Qu2,3,4,
  3. Xiulan Li1,
  4. Yi Shi1,2,3,
  5. Ying Lin1,2,3,
  6. Yu Zhou1,2,3,
  7. Ping Shuai1,2,3,
  8. Yin Yang2,3,4,
  9. Xiaoqi Liu1,2,3,
  10. Dingding Zhang1,2,3,
  11. Zhenglin Yang1,2,3
  1. 1Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China
  2. 2School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
  3. 3Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China
  4. 4Department of Ophthalmology, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China
  1. Correspondence to Dr Zhenglin Yang, Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, 32 Road West 2, the First Ring, Chengdu, Sichuan 610072, China; zliny{at}yahoo.com

Abstract

Purpose The CYP1B1 gene has been shown to be related to primary open-angle glaucoma (POAG). This study aimed to identify the mutation profile of CYP1B1 in Chinese individuals with POAG.

Methods The study included 416 unrelated cases diagnosed as POAG by standard ophthalmological examinations, and 657 unrelated healthy controls in a Chinese population. Genomic DNA was collected from peripheral blood of all the participants. The coding sequence of CYP1B1 was amplified by PCR from genomic DNA, followed by direct DNA sequencing.

Results Among 416 patients with POAG, 13 missense mutations, including nine reported mutations and four novel mutations (p.P93S, p.R259C, p.A295T, p.L475P), were detected in 25 patients. All these mutations were found as heterozygotes and the reported mutations have been previously found in primary congenital glaucoma and/or POAG patients. Three of them (p.L107V, p.E229K, p.V320L) were also found in healthy controls. In addition, six previously reported single nucleotide polymorphisms (p.R48G, p.A119S, p.V243V, p.V432L, p.D449D, p.N453S) were also observed in POAG patients and controls, and they showed no obvious frequency difference between patients and controls.

Conclusions This study provides a mutation spectrum of CYP1B1 resulting in POAG development in a Chinese population, which may demonstrate an involvement of the gene in a proportion of subjects with POAG and help to improve our understanding of the pathogenesis of CYP1B1-associated POAG.

  • Genetics
  • Glaucoma

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