GENETICS OF SEVERE PEDIATRIC GASTROESOPHAGEAL REFLUX

严重小儿胃食管反流的遗传学

• 批准号: 6698721
• 负责人: Garth D. Ehrlich
• 金额: $ 3.99万
• 依托单位: ALLEGHENY-SINGER RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-07-01 至 2004-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6698721
• 关键词: autosomal dominant trait; child (0-11); clinical research; family genetics; gene expression; gene mutation; genetic library; genetic polymorphism; genetic screening; genotype; high throughput technology; human genetic material tag; human subject; linkage mapping; molecular cloning; reflux esophagitis

DESCRIPTION (Adapted from investigator's abstract): Proposal to identify the gene responsible for autosomal dominant gastro-esophageal reflux. PI has already collected 8 families with autosomal dominant GER and mapped a gene within a 9 cM region on chromosome 13q14 (paper submitted). They are proposing to gather more families, narrow region, scan already existing ESTs in region for mutations, and identify new genes in high throughput genome sequence (htgs) database at NCBI. As they are doing this, they will also cover region in YAC and BAC contig and use genomic pull down (cDNA selection) to find genes expressed in a griddled gastroesophageal library they will construct from whole esophagus, including autonomic nerve trunks.

描述（改编自研究者的摘要）：确定 负责常染色体显性胃食管反流的基因。 PI有 已经收集了8个常染色体显性GER家族并绘制了基因图谱 在染色体 13q14 上 9 cM 的区域内（已提交论文）。他们正在提议 为了聚集更多的家庭，缩小区域范围，扫描该区域现有的 EST 突变，并在高通量基因组序列 (htgs) 中识别新基因 NCBI 数据库。当他们这样做时，他们还将覆盖 YAC 中的区域 和 BAC 重叠群，并使用基因组下拉（cDNA 选择）来查找基因 在一个网格化的胃食管文库中表达，他们将从整个胃食管文库中构建 食道，包括自主神经干。

项目成果

Fine mapping a gene for pediatric gastroesophageal reflux on human chromosome 13q14.

精细定位人类染色体 13q14 上的儿童胃食管反流基因。

• 发表时间: 2004-05
• 影响因子: 5.3
• 作者: Hu, Fen Ze;Donfack, Joseph;Ahmed, Azad;Dopico, Richard;Johnson, Sandra;Post, J Christopher;Ehrlich, Garth D;Preston, Robert A
• 通讯作者: Preston, Robert A

Genetics of pediatric gastroesophageal reflux.

小儿胃食管反流的遗传学。

• 发表时间: 2005-02
• 作者: Post, J Christopher;Ze, Fen;Ehrlich, Garth D
• 通讯作者: Ehrlich, Garth D