样本编号 SAMC3174028
外部数据库编号 GSA-Human: HRS994707
样品名称 22B03730278_b
样本标题 Dried blood spots
样品类型 Human sample
物种名称 Homo sapiens
描述信息 newborn screening for genetic hearing loss
样本属性 *该样本包含更多受控访问信息,请通过GSA-Human系统申请项目HRA006031数据获取。
发布日期 2023-11-16
项目编号 PRJCA020125
提交者 peirun  tian  (mazhanzhong816@163.com)
提交单位 bgi
提交日期 2023-11-17

样本包含数据信息

资源名称 描述
GSA-Human (1) -
HRA006031  (Controlled Access) This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control.A total of 10183 neonates were recruited between January 2018 and December 2022 at Yuebei People's Hospital. Among these, a PCR hybridization screening group of 8276 neonates was tested for four deafness genes: GJB2, SLC26A4, mtDNA, and GJB3 by PCR hybridization. Another group used next-generation sequencing (NGS) to detect genetic susceptibility genes in more than 1000 neonates.
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