...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genome >A candidate gene for choanal atresia in alpaca
【24h】

A candidate gene for choanal atresia in alpaca

机译：羊驼毛闭锁的候选基因

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

Choanal atresia (CA) is a common nasal craniofacial malformation in New World domestic camelids (alpaca and llama). CA results from abnormal development of the nasal passages and is especially debilitating to newborn crias. CA in camelids shares many of the clinical manifestations of a similar condition in humans (CHARGE syndrome). Herein we report on the regulatory gene CHD7 of alpaca, whose homologue in humans is most frequently associated with CHARGE. Sequence of the CHD7 coding region was obtained from a non-affected cria. The complete coding region was 9003 bp, corresponding to a translated amino acid sequence of 3000 aa. Additional genomic sequences corresponding to a significant portion of the CHD7 gene were identified and assembled from the 2x alpaca whole genome sequence, providing confirmatory sequence for much of the CHD7 coding region. The alpaca CHD7 mRNA sequence was 97.9% similar to the human sequence, with the greatest sequence difference being an insertion in exon 38 that results in a polyalanine repeat (A l2). Polymorphism in this repeat was tested for association with CA in alpaca by cloning and sequencing the repeat from both affected and non-affected individuals. Variation in length of the poly-A repeat was not associated with CA. Complete sequencing of the CHD7 gene will be necessary to determine whether other mutations in CHD7 are the cause of CA in camelids.
机译：在新世界的家养骆驼科动物（羊驼和美洲驼）中，软骨闭锁症（CA）是常见的鼻颅面畸形。 CA是由于鼻道异常发育而引起的，尤其会使新生儿的crias虚弱。骆驼科动物中的CA与人类类似的疾病（CHARGE综合征）有许多临床表现。在这里，我们报告羊驼的调节基因CHD7，其在人类中的同源性最常与CHARGE相关。 CHD7编码区的序列获自未受影响的泪腺。完整的编码区为9003 bp，对应于3000个氨基酸的翻译氨基酸序列。从2x羊驼全基因组序列中鉴定并组装了与CHD7基因重要部分相对应的其他基因组序列，从而为大部分CHD7编码区提供了确认序列。羊驼CHD7 mRNA序列与人序列相似，为97.9％，最大的序列差异是外显子38中的插入，导致了聚丙氨酸重复序列的出现（A1 2）。通过对受影响和未受影响个体的重复序列进行克隆和测序，测试了该重复序列中的多态性与羊驼中的CA的关联。 poly-A重复序列的长度变化与CA无关。要确定CHD7中的其他突变是否是骆驼科中CA的原因，必须对CHD7基因进行完整测序。

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