[A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia].
[A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia].
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发表时间：
2008-04
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通讯作者：
Y. Kang;H. Yuan;Yuan-yuan Li
中科院分区：
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作者：
Y. Kang;H. Yuan;Yuan-yuan Li
目的检测东北地区一个无虹膜家系PAX6基因突变情况。方法对该家系中的3例无虹膜患者进行全面眼科检查。从这3名患者、5名非携带者和100名健康正常对照的静脉血白细胞中提取基因组DNA。采用聚合酶链式反应、单链构象多态分析和DNA直接测序等方法对PAX6基因编码区进行分析。结果测序结果在3例家族性无虹膜患者中发现1个新的PAX6突变。该突变是外显子5(c.483del9)上9个碱基对的缺失，导致了推测的PAX6蛋白，在41-43个氨基酸上有天冬氨酸、异亮氨酸和丝氨酸的框内缺失。结论在东北地区一个无虹膜家系中发现PAX6基因突变，该突变超出了已有的突变谱。遗传分析表明，PAX6基因的新突变可能是典型的无虹膜表型的原因。
OBJECTIVE To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia. METHODS Three aniridia patients from the family were undergone full ophthalmologic examinations. Genomic DNA was prepared from venous leukocytes from these three patients, five non-carriers in the family as well as 100 healthy normal controls. The coding regions of PAX6 gene were analyzed by PCR amplification, single-strand conformation polymorphism and direct DNA sequencing. RESULTS The sequencing result revealed one novel PAX6 mutation in the three patients with familial aniridia. The mutation is a 9 base pair(bp) deletion in exon 5 (c.483del9) that results in a putative PAX6 protein with in-frame deletions of aspartic acid, isoleucine and serine at the amino acids 41-43. CONCLUSION A PAX6 gene mutation beyond the existing spectrum of mutations has been identified in a northeastern Chinese family with aniridia. The genetic analysis suggests that the novel mutation in the PAX6 gene may be the cause of the classical aniridia phenotype.