中国年龄相关性白内障患者中EFNA5的突变筛查
Mutational screening of EFNA5 in Chinese age-related cataract patients.
作者信息
Lin Qinghong, Zhou Nan, Zhang Na, Qi Yanhua
机构信息
Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, PR China.
出版信息
Ophthalmic Res. 2014;52(3):124-9. doi: 10.1159/000363139. Epub 2014 Oct 3.
BACKGROUND/AIM: In the past few years, Ephrin-A5 (EFNA5) had been identified to be associated with lens development, but so far no sequence variation in EFNA5 has been reported in humans. Therefore, we conduct this study to investigate the EFNA5 genetic variations in Chinese age-related cataract (ARC) patients.
METHODS
Sequencing of EFNA5 was performed in 140 sporadic ARC patients and 142 random unrelated healthy subjects. Genomic DNA was extracted from peripheral blood leukocytes. All exons of EFNA5 were sequenced after being amplified by polymerase chain reaction. The functional consequences of the variations were analyzed using PolyPhen2.
RESULTS
Three single nucleotide polymorphisms in EFNA5, c.668C>T (rs201008479), c.102C>T (rs199980747) and c.-27C>G (rs200187971), were found in the patients, and none of them presented in the normal controls. Using PolyPhen2, c.668C>T in EFNA5 is predicted to be possibly damaging.
CONCLUSIONS
The genetic variations c.668C>T (rs201008479), c.102C>T (rs199980747) and c.-27C>G (rs200187971) may present an additional genetic risk factor for ARC in the Chinese population. This study shows the first cases of these genetic variations in EFNA5 in human beings.
背景/目的：在过去几年中，已确定埃菲林-A5（EFNA5）与晶状体发育有关，但迄今为止，尚未有关于EFNA5基因序列变异的人类报道。因此，我们开展本研究以调查中国年龄相关性白内障（ARC）患者的EFNA5基因变异情况。
方法
对140例散发性ARC患者和142名随机选取的无血缘关系健康受试者进行EFNA5测序。从外周血白细胞中提取基因组DNA。通过聚合酶链反应扩增后，对EFNA5的所有外显子进行测序。使用PolyPhen2分析变异的功能后果。
结果
在患者中发现了EFNA5的三个单核苷酸多态性，即c.668C>T（rs201008479）、c.102C>T（rs199980747）和c.-27C>G（rs200187971），而正常对照组中均未出现。使用PolyPhen2预测，EFNA5中的c.668C>T可能具有损害性。
结论
基因变异c.668C>T（rs201008479）、c.102C>T（rs199980747）和c.-27C>G（rs200187971）可能是中国人群ARC的额外遗传危险因素。本研究首次报道了人类中这些EFNA5基因变异的病例。
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