...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Molecular vision >Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
【24h】

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

机译：应用基因分型芯片对272例常染色体隐性遗传性视网膜炎的西班牙家庭进行突变分析

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Purpose: Retinitis pigmentosa (RP) is agenetically heterogeneous disorder characterized by progressive loss ofvision. The aim of this study was to identify the causative mutationsin 272 Spanish families using a genotyping microarray. Methods: 272 unrelated Spanish families,107 with autosomal recessive RP (arRP) and 165 with sporadic RP (sRP),were studied using the APEX genotyping microarray. The families werealso classified by clinical criteria: 86 juveniles and 186 typical RPfamilies. Haplotype and sequence analysis were performed to identifythe second mutated allele. Results: At least one-gene variant wasfound in 14% and 16% of the juvenile and typical RP groupsrespectively. Further study identified four new mutations, providingboth causative changes in 11% of the families. Retinol Dehydrogenase 12(RDH12) was the most frequently mutated gene in the juvenile RPgroup, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL)werethemostfrequentlymutatedgenesinthetypicalRPgroup.Theonlyvariant found in CERKL was p.Arg257Stop, the most frequentmutation. Conclusions: The genotyping microarraycombined with segregation and sequence analysis allowed us to identifythe causative mutations in 11% of the families. Due to the low numberof characterized families, this approach should be used in tandem withother techniques.
机译：目的：色素性视网膜炎（RP）是年龄异质性疾病，其特征是进行性视力丧失。这项研究的目的是使用基因分型微阵列鉴定272个西班牙家庭中的致病性突变。方法：使用APEX基因分型芯片研究了272个无关的西班牙家庭，107个常染色体隐性RP（arRP）和165个散发RP（sRP）。还按照临床标准对这些家庭进行了分类：86个少年和186个典型的RP家庭。进行单倍型和序列分析以鉴定第二个突变的等位基因。结果：分别在青少年和典型RP组中分别发现14％和16％的至少一种基因变异。进一步的研究确定了四个新的突变，在11％的家庭中都提供了致病性变化。视黄醇脱氢酶12（RDH12）是青少年RP组中最常见的突变基因，而Usher综合征2A（USH2A）和神经酰胺激酶样（CERKL）则是典型RP组中最常见的突变基因。结论：基因分型微阵列与分离和序列分析相结合，使我们能够鉴定11％的家庭中的致病性突变。由于特征族的数量少，因此该方法应与其他技术结合使用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号