Mutation spectrum of PAX6 in Chinese patients with aniridia
Mutation spectrum of PAX6 in Chinese patients with aniridia
复制标题
中国无虹膜患者PAX6突变谱
作者：
Li S;Zhang Q;Wang P;Guo X;Zhang X;Xiao X（肖学珊）
目的鉴定33例无虹膜先显子配对盒6 （PAX6）基因突变，揭示中国人群PAX6基因突变谱。方法选取27个新分析的无虹膜家族和6个已有分析的无虹膜家族的无虹膜非相关先证者进行研究。利用循环测序对27个新家族的PAX6编码区进行分析。基于测序缺乏可检测变异的家族（14个新的和6个以前分析过的）进一步使用多重连接依赖探针扩增（MLPA）进行分析。结果33个家族中，16个家族共鉴定出15个突变：c.[65_94del30；[99_105dup7], c.101_102insA, c.177delG, c. 238_239insggga, c.1033-42_1033-26del17insG, c.1A >g, c.120C>A, c.718C>T, c.949C>T, c.1062C >a, c.1183G >a, c.1268A >t，以及涉及外显子1-14,8-14和9-14的3个主要缺失。前5个突变是新发现的，其中c.1268A >t突变存在于两个家族中。观察到家族间和家族内不同患者之间的表型差异。结论中国无虹膜患者PAX6基因突变谱与其他民族患者具有可比性。对未检测到突变的17个家族的进一步研究可能为提高对无虹膜分子遗传学的理解提供额外的信息。
Purpose To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population. Methods Unrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The coding regions of PAX6 in the 27 new families were analyzed using cycle sequencing. Families that lacked detectable variations based on sequencing (14 new and six previously analyzed) were further analyzed using multiplex ligation-dependent probe amplification (MLPA). Results Fifteen mutations were identified in 16 of the 33 families: c.[65_94del30; 99_105dup7], c.101_102insA, c.177delG, c.238_239insGCGA, c.1033–42_1033–26del17insG, c.1A>G, c.120C>A, c.718C>T, c.949C>T, c.1062C>A, c.1183G>A, c.1268A>T, and three gross deletions involving exons 1–14, exons 8–14, and exons 9–14. The first five mutations were novel and the c.1268A>T mutation was present in two families. Phenotypic variations were observed between families and between different affected patients within the families. Conclusions The PAX6 mutation spectrum in Chinese aniridia patients is comparable to that reported in other ethnic groups. Further studies of the 17 families with no detected mutations may provide additional information to improve the understanding of the molecular genetics of aniridia.
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影响因子：
--
作者：
Neethirajan G;Krishnadas SR;Vijayalakshmi P;Shashikant S;Sundaresan P
通讯作者：
Sundaresan P
影响因子：
1.2
作者：
L. Atchaneeyasakul;A. Trinavarat;D. Dulayajinda;Kornphet Kumpornsin;W. Thongnoppakhun;P. Yenchitsomanus;C. Limwongse
通讯作者：
L. Atchaneeyasakul;A. Trinavarat;D. Dulayajinda;Kornphet Kumpornsin;W. Thongnoppakhun;P. Yenchitsomanus;C. Limwongse
影响因子：
2.2
作者：
A. Churchill;A. Yeung
通讯作者：
A. Churchill;A. Yeung
影响因子：
2.2
作者：
E. Redeker;Annette S.H. de Visser;A. Bergen;M. Mannens
通讯作者：
E. Redeker;Annette S.H. de Visser;A. Bergen;M. Mannens
DOI：
10.3760/cma.j.issn.0412-4081.2009.10.015
发表时间：
2009-10
期刊：
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
影响因子：
--
作者：
Pengcheng Li;Q. Yao;X. Ren;Ming-Chang Zhang;Hui Li;Jing-Yu Liu;Shuang-yan Sheng;Qing Wang;
通讯作者：
Pengcheng Li;Q. Yao;X. Ren;Ming-Chang Zhang;Hui Li;Jing-Yu Liu;Shuang-yan Sheng;Qing Wang;