GENETICS OF ANORECTAL MALFORMATIONS IN HUMANS

人类肛门直肠畸形的遗传学

• 批准号: 7607797
• 负责人: MICHAEL D. BATES
• 金额: $ 8.52万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-02-15 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7607797
• 关键词: Affect; Aliquot; Biological; Blood specimen; Candidate Disease Gene; Child; Colorectal; Computer Retrieval of Information on Scientific Projects Database; DNA; Defect; Family; Family history of; Family member; Funding; Genetic; Grant; Human; Individual; Inpatients; Institution; International; Live Birth; Medical center; Motor; Operative Surgical Procedures; Outpatients; Parents; Pediatric Hospitals; Procedures; Purpose; Recording of previous events; Research; Research Personnel; Resources; Source; Structure; Surgeon; United States National Institutes of Health; Whole Blood; base; gastrointestinal system; malformation; proband

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to identify the genetic causes of defects of digestive system structure and motor function, with a primary focus on anorectal malformations. Such defects are relatively rare (1 in 2,000-5,000 live births), but the national and international reputation of the surgeons of the Colorectal Center of Cincinnati Children's Hospital Medical Center results in a large base of potential subjects. Affected individuals and family members who are seen as outpatients and inpatients at Cincinnati Children's are asked to participate. As part of the research procedures, families agree to answer questions related to the proband's family history, medical and surgical history as well as environmental questions. Blood samples are obtained from the subject, his/her biological parents and, in cases with a positive family history, other affected family members. Blood samples are aliquoted for storage as whole blood or buffy coats. DNA extracted from blood samples will be used for candidate gene and association studies to determine the genetic basis of anorectal malformations.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 这项研究的目的是确定消化系统结构和运动功能缺陷的遗传原因，主要关注肛门直肠畸形。 这些缺陷相对较少（2,000-5,000名活产），但是辛辛那提儿童医院医疗中心大肠肠中心外科医生的国家和国际声誉却导致了大量的潜在受试者。 辛辛那提儿童的受影响的个人和家庭成员被视为门诊病人和住院患者。 作为研究程序的一部分，家庭同意回答与证据的家族史，医学和外科历史以及环境问题有关的问题。 血液样本是从该学科，他/她的亲生父母那里获得的，在有积极的家族史的情况下，还获得了其他受影响的家庭成员。 将血液样品等分为全血或巴菲毛。 从血液样本中提取的DNA将用于候选基因和关联研究，以确定厌食直肠畸形的遗传基础。