GENETICS OF ANORECTAL MALFORMATIONS IN HUMANS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 本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，主要集中在肛门直肠畸形。这种缺陷相对罕见(每2000-5000名活产儿中就有一名)，但辛辛那提儿童医院医学中心结直肠中心外科医生在国内和国际上的声誉导致了大量潜在的研究对象。受影响的个人和家庭成员被视为辛辛那提儿童医院的门诊和住院患者，他们被要求参加。作为研究程序的一部分，家属同意回答与先证者的家族史、内科和手术史以及环境问题有关的问题。血液样本取自受试者及其亲生父母，在有阳性家族史的情况下，取自受影响的其他家庭成员。血液样本被等量储存为全血或黄褐色大衣。从血液样本中提取的DNA将用于候选基因和关联研究，以确定肛门直肠畸形的遗传基础。

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.