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).
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).
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DOI：
10.1006/geno.1999.5908
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发表时间：
1999-08
期刊：
影响因子：
4.4
通讯作者：
C. Y. Wang;J. Shi;Y. Q. Huang;P. E. Cruz;B. Ochoa;B. Hawkins-Lee;A. Davoodi-Semiromi;J. She
中科院分区：
文献类型：
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作者：
C. Y. Wang;J. Shi;Y. Q. Huang;P. E. Cruz;B. Ochoa;B. Hawkins-Lee;A. Davoodi-Semiromi;J. She
Urofacial（Ochoa）syndrome是一种常染色体隐性遗传疾病，以面部表情扭曲和泌尿系统异常为特征。以前，我们将UFS基因定位到染色体10 q23-q24，并将间隔缩小到一个1410 kb的YAC克隆。在这里，我们已经构建了一个BAC/PAC重叠群的1 Mb区域使用STS内容映射42 BAC/PAC末端序列，9个以前报道的和16个新发现的微卫星标记，和14个EST标记。共有26个多态性微卫星标记的基因分型31 UFS患者来自哥伦比亚和2例来自美国。单倍型分析表明，UFS基因位于两个重叠的BAC克隆内，DNA序列<360 kb的区域。我们测试了42个EST标记，以前映射到D10 S1709-D10 S603区间对BAC/PAC重叠群，并确定了11个EST位于1-Mb区域。11个EST中有4个定位在360-kb的UFS关键区。对这两个BAC克隆进行Shotgun测序，并在EST数据库中进行BLACKS搜索，发现UFS关键区中含有另外3个EST。这些结果将有助于UFS基因的克隆和鉴定。
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.