[Analysis of PAX6 gene in a Chinese family with congenital aniridia].
[Analysis of PAX6 gene in a Chinese family with congenital aniridia].
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DOI：
10.3760/cma.j.issn.0412-4081.2009.10.015
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发表时间：
2009-10
期刊：
影响因子：
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通讯作者：
Pengcheng Li;Q. Yao;X. Ren;Ming-Chang Zhang;Hui Li;Jing-Yu Liu;Shuang-yan Sheng;Qing Wang;
中科院分区：
文献类型：
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作者：
Pengcheng Li;Q. Yao;X. Ren;Ming-Chang Zhang;Hui Li;Jing-Yu Liu;Shuang-yan Sheng;Qing Wang;
目的探讨中国1个先天性无虹膜家系的致病突变情况。方法 这是一项病例对照研究。 21名家庭成员全部接受了全面的眼科检查和家系调查。从外周血中分离单个核细胞，并通过基因组DNA纯化试剂盒制备基因组DNA。 PAX6 基因的所有 14 个外显子均通过聚合酶链式反应 (PCR) 从先证者的基因组 DNA 中扩增。通过直接测序分析每个外显子的PCR产物。结果先证者III2测序分析发现PAX6基因第11外显子存在无义突变（Q310X）。该突变导致第 301 个氨基酸密码子从 CAA 转换为 TAA，并且密码子氨基酸从谷氨酰胺谷氨酸变为强末端密码子。该家族的所有 11 名患者中也检测到了这种突变，但该家族中未受影响的成员中不存在这种突变。结论Q310X无义突变引起的PAX6基因提前翻译终止可能是该中国家庭先天性无虹膜的原因。
OBJECTIVE To explore the pathogenic mutation in a Chinese family with congenital aniridia. METHODS It is a case-control study. All 21 members of the family underwent a comprehensive ophthalmic examination and family line investigation. Mononuclear cell was isolated from peripheral blood and genomic DNA was prepared by genomic DNA purification kit. All fourteen exons of the PAX6 gene were amplified by polymerase chain reaction (PCR) from proband's genomic DNA. PCR products of each exon were analyzed by direct sequencing. RESULTS A nonsense mutation (Q310X) in exon 11 of PAX6 gene was detected by sequencing analysis in the proband III2. This mutation cause the 301st amino acids codon switch from CAA to TAA and the codogenic amino acids altered from glutamine glutaminic acid to strong terminal codon. This mutation is also detected in all 11 patients of this family, but not present in the unaffected members in this family. CONCLUSION The premature translation termination of PAX6 gene caused by a nonsense mutation of Q310X should be responsible for congenital aniridia in this Chinese family.