两个患有诺里病的家族中NDP基因的分子分析。
Molecular analysis of the NDP gene in two families with Norrie disease.
作者信息
Rivera-Vega M Refugio, Chiñas-Lopez Silvet, Vaca Ana Luisa Jimenez, Arenas-Sordo M Luz, Kofman-Alfaro Susana, Messina-Baas Olga, Cuevas-Covarrubias Sergio Alberto
机构信息
Department of Genetics, General Hospital of Mexico, Faculty of Medicine, University of Mexico, Mexico City, Mexico.
出版信息
Acta Ophthalmol Scand. 2005 Apr;83(2):210-4. doi: 10.1111/j.1600-0420.2005.00398.x.
PURPOSE
To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND).
METHODS
We analysed two families with ND at molecular level through polymerase chain reaction, DNA sequence analysis and GeneScan.
RESULTS
Two molecular defects found in the NDP gene were: a missense mutation (265C > G) within codon 97 that resulted in the interchange of arginine by proline, and a partial deletion in the untranslated 3' region of exon 3 of the NDP gene. Clinical findings were more severe in the family that presented the partial deletion. We also diagnosed the carrier status of one daughter through GeneScan; this method proved to be a useful tool for establishing female carriers of ND.
CONCLUSION
Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status.
目的
描述两个患有诺里病（ND）的家族中诺里病蛋白（NDP）基因的分子缺陷。
方法
我们通过聚合酶链反应、DNA序列分析和基因扫描在分子水平上分析了两个患有ND的家族。
结果
在NDP基因中发现的两个分子缺陷为：密码子97内的错义突变（265C>G），导致精氨酸被脯氨酸替换，以及NDP基因外显子3的非翻译3'区域的部分缺失。出现部分缺失的家族临床症状更严重。我们还通过基因扫描诊断出一个女儿的携带者状态；该方法被证明是确定ND女性携带者的有用工具。
结论
在此我们报告了墨西哥患者中NDP基因的两个新突变，并提出基因扫描是确定ND携带者状态的可行方法。
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