[一个中国先天性无虹膜家系的PAX6基因突变分析]
[Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia].
作者信息
Chen Jing, Zhu Jianfang
机构信息
Department of Pediatric Rheumatology and Immunology, Wuhan Women and Children's Health Center, Wuhan, Hubei 430015, China; Central Laboratory, Union Hospital Affiliated to Tongji Medical College, Hua Zhong University of Science and Technology, Wuhan, Hubei 430022, China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):523-5. doi: 10.3760/cma.j.issn.1003-9406.2016.04.022.
OBJECTIVE
To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.
METHODS
Blood samples were drawn from family members, and DNA was analyzed by direct sequencing.
RESULTS
A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.
CONCLUSION
A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.
目的
研究一个患有先天性无虹膜的中国家系中PAX6基因的突变情况。
方法
采集家系成员的血样，采用直接测序法分析DNA。
结果
在该家系的先证者及其他患者中，PAX6基因鉴定出一个杂合突变（c.151 G>A）。在未患病的家系成员及160名无关健康对照中未发现相同突变。
结论
在一个患有无虹膜的中国家系中鉴定出PAX6基因的一个新突变。
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