...
首页> 外文期刊>American journal of medical genetics, Part A >Researchers use bloodspots to identify genetic hearing loss: study indicates testing scenario has potential.
【24h】

Researchers use bloodspots to identify genetic hearing loss: study indicates testing scenario has potential.

机译:研究人员使用血斑来识别遗传性听力损失:研究表明测试方案具有潜力。

获取原文
获取原文并翻译 | 示例

摘要

Bloodspot-based genetic testing for common GJB2 alleles as second tier test for newborn hearing screening (NHS) may reduce the number of children with hearing loss who don't receive follow-up services, say University of Minnesota researchers. Genetic causes contribute to over one half of all cases of hearing loss in infants and autosomal recessive mutations in the GJB2 gene are one of the most common culprits in North America. Meanwhile, about 43% of infants referred by newborn screening for hearing loss are lost to follow up and possibly, early habilitation that could improve language skills, note researchers (Schimmenti et al., 2011).
机译:明尼苏达大学的研究人员说,对普通GJB2等位基因进行基于血斑的基因检测,作为新生儿听力筛查(NHS)的第二级检测,可能会减少没有接受后续服务的听力损失儿童的数量。遗传原因占婴儿听力丧失的一半以上,而GJB2基因的常染色体隐性突变是北美最常见的罪魁祸首之一。同时,研究人员指出,新生儿筛查转介的听力损失婴儿中约有43%失去了跟进机会,而且可能早期通气能改善语言技能(Schimmenti等,2011)。

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