• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genomics >Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb).
【24h】

Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb).

机译：构建包含10q23-q24上的面部（Ochoa）综合征基因的1-Mb基因组区域的物理和转录图，并将疾病基因定位在两个重叠的BAC克隆中（<360 kb）。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted facial expression and urinary abnormalities. Previously, we mapped the UFS gene to chromosome 10q23-q24 and narrowed the interval to one YAC clone of 1410 kb. Here, we have constructed a BAC/PAC contig of the 1-Mb region using STS content mapping with 42 BAC/PAC-end sequences, 9 previously reported and 16 newly identified microsatellite markers, and 14 EST markers. A total of 26 polymorphic microsatellite markers were genotyped for 31 UFS patients from Colombia and 2 patients from the United States. Haplotype analyses suggest that the UFS gene is located within two overlapping BAC clones, a region of <360 kb of DNA sequence. We tested 42 EST markers previously mapped to the D10S1709-D10S603 interval against the BAC/PAC contig and identified 11 ESTs located in the 1-Mb region. Four of the 11 ESTs mapped to the 360-kb UFS critical region. Shotgun sequencing of the two BAC clones and BLASTN search of the EST databases revealed 3 other ESTs contained in the UFS critical region. These results will facilitate the cloning and identification of the UFS gene. Copyright 1999 Academic Press.
机译：尿面（Ochoa）综合征是一种常染色体隐性遗传疾病，其特征是面部表情失真和尿液异常。以前，我们将UFS基因定位到10q23-q24染色体，并将间隔缩小到一个1410 kb的YAC克隆。在这里，我们使用STS内容映射与42个BAC / PAC末端序列，9个先前报道的和16个新鉴定的微卫星标记以及14个EST标记，构建了1-Mb区的BAC / PAC重叠群。对来自哥伦比亚的31位UFS患者和来自美国的2位患者进行了共26种多态性微卫星标记的基因分型。单倍型分析表明，UFS基因位于两个重叠的BAC克隆内，DNA序列的<360 kb区域。我们针对BAC / PAC重叠群测试了先前映射到D10S1709-D10S603区间的42个EST标记，并确定了位于1-Mb区域的11个EST。 11个EST中有四个映射到360-kb UFS关键区域。两个BAC克隆的Shotgun测序和EST数据库的BLASTN搜索显示了UFS关键区域中包含的其他3个EST。这些结果将有助于UFS基因的克隆和鉴定。版权所有1999 Academic Press。

著录项

相似文献

  • 外文文献
  • 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