[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].
[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].
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DOI：
10.3760/cma.j.issn.1003-9406.2009.05.015
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发表时间：
2009-10
期刊：
影响因子：
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通讯作者：
Ying Lin;Jing Li;Yang Yang-Yang;Jiyun Yang;Ben Zhang;Xin-zhi Tang;Xiaoqui Liu;Fang Lu;Zheng-lin Y
中科院分区：
文献类型：
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作者：
Ying Lin;Jing Li;Yang Yang-Yang;Jiyun Yang;Ben Zhang;Xin-zhi Tang;Xiaoqui Liu;Fang Lu;Zheng-lin Y
目的检测一个先天性无虹膜白内障家系的PAX 6基因突变。方法从12名家系成员（3名健在的患者和96名健康对照）外周血白细胞中提取总基因组DNA。通过聚合酶链反应（PCR）扩增PAX 6基因的编码外显子4-13及其内含子侧翼序列。通过比较患病成员与正常个体的序列，通过直接DNA测序检测致病突变。结果在3例患者中发现PAX 6基因突变，而在正常人和无关健康人中均未发现该突变。在第1143位核苷酸处检测到C至T的无义突变，其将第10外显子的Arg密码子（CGA）转换为终止密码子（TGA）（R261 X）。结论R261 X突变可能是导致该家系先天性无虹膜和白内障的原因。
OBJECTIVE To identify the mutation in the PAX6 gene in a family with congenital aniridia and cataract. METHODS Total genomic DNA was extracted from peripheral blood leukocytes of 12 family members including three living affected members and 96 unrelated healthy controls. The coding exons 4-13 of the PAX6 gene with intronic flanking sequences were amplified by polymerase chain reaction (PCR). By comparing sequences of the affected members with that of normal individuals, the disease-causing mutation was detected by direct DNA sequencing. RESULTS A PAX6 mutation was identified in the 3 patients, which did not exist in the unaffected members and unrelated healthy individuals. The nonsense mutation of C to T was detected at the nucleotide 1143, which converted the Arg codon (CGA) to a stop codon(TGA) (R261X) in exon 10. CONCLUSION The mutation (R261X) detected in the present study is considered to result in the occurrence of congenital aniridia and cataract in the Chinese family.