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Int J Clin Exp Med. 2015 Aug 15;8(8):14538-41. eCollection 2015.
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本文引用的文献

1
[A novel mutation of CYP1B1 gene in primary congenital glaucoma].[原发性先天性青光眼患者CYP1B1基因的一种新突变]
Zhonghua Yan Ke Za Zhi. 2009 Oct;45(10):875-8.
2
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.中国原发性先天性青光眼患者CYP1B1基因突变的研究。
Mol Vis. 2009;15:432-7. Epub 2009 Feb 27.
3
CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma.116例中国原发性先天性青光眼患者的CYP1B1和MYOC基因突变
Arch Ophthalmol. 2008 Oct;126(10):1443-7. doi: 10.1001/archopht.126.10.1443.
4
[Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality].[湖北汉族原发性先天性青光眼患者CYP1B1基因突变分析]
Zhonghua Yan Ke Za Zhi. 2007 Sep;43(9):779-83.
5
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.伊朗原发性先天性青光眼患者的CYP1B1突变谱及相关单倍型
J Mol Diagn. 2007 Jul;9(3):382-93. doi: 10.2353/jmoldx.2007.060157.
6
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).对埃及和沙特阿拉伯原发性先天性青光眼（PCG）患者的临床和分子遗传学研究。
J Glaucoma. 2007 Jan;16(1):104-11. doi: 10.1097/01.ijg.0000212288.00917.e1.
7
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.在一个分离原发性先天性青光眼的近亲群体中，多个CYP1B1突变和不完全外显率提示频繁的新生事件和一个显性修饰位点。
Hum Mol Genet. 2000 Feb 12;9(3):367-74. doi: 10.1093/hmg/9.3.367.
8
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.鉴定出细胞色素P4501B1（CYP1B1）中的三种不同截短突变，这是与2号染色体2p21上GLC3A位点连锁的家族性原发性先天性青光眼（牛眼症）的主要病因。
Hum Mol Genet. 1997 Apr;6(4):641-7. doi: 10.1093/hmg/6.4.641.

中国一个原发性先天性青光眼家系中具有不完全外显率的CYP1B1基因突变：病例报告及文献复习

CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures.

作者信息

Chen Ling, Huang Lina, Zeng Aineng, He Jing

机构信息

Shenzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Affiliated Shenzhen Eye Hospital of Jinan University Shenzhen, P. R. China.

Shenzhen Eye Hospital, Shenzhen Key Laboratory of Ophthalmology, Affiliated Shenzhen Eye Hospital of Jinan University Shenzhen, P. R. China ; Huaxia Shenzhen Eye Hospital Affiliated Medical College of Xiamen University Shenzhen, P. R. China.

出版信息

Int J Clin Exp Med. 2015 Aug 15;8(8):14538-41. eCollection 2015.

PMID:26550445
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4613130/
Abstract

To investigate the cytochrome P4501B1 (CYP1B1) mutations in a three-generation Chinese Han family with PCG, the 2 and 3 coding exons of CYP1B1 gene were amplified by PCR, and were directly sequenced using Sanger bidirectional sequencing reactions. The mutation c.517 G>A p.E173K was detected in all the affected individuals (which showed homozygous AA genotype) and not in all the unaffected ones except one individual. The mutation c.517 G>A p.E173K is associated with disease causing in this pedigree. And the possible genetic model is recessive inheritance. One apparently unaffected individual had mutations and haplotypes identical to her affected sibs suggested incomplete penetrance in this pedigree.

摘要

为研究一个患有原发性先天性青光眼（PCG）的中国汉族三代家系中的细胞色素P4501B1（CYP1B1）突变情况，采用聚合酶链反应（PCR）扩增CYP1B1基因的第2和第3个编码外显子，并使用桑格双向测序反应进行直接测序。在所有患病个体中检测到突变c.517 G>A p.E173K（均显示纯合AA基因型），除一名个体外，所有未患病个体均未检测到该突变。突变c.517 G>A p.E173K与该家系中的致病相关。可能的遗传模式为隐性遗传。一名明显未患病个体具有与她患病同胞相同的突变和单倍型，提示该家系存在不完全外显。