GENETICS OF ANORECTAL MALFORMATIONS IN HUMANS

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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.