Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 370
- 试验地点
- 2
研究概览
简要总结
The goal of this study is to identify and characterize the genetic loci causing idiopathic talipes equinovarus (clubfoot).
The hypothesis is that a few genes account for a substantial fraction of ITEV and that these genes can be identified in defined populations. Towards this goal, in preliminary studies, Dr. Hecht's group has identified two genes, NAT2 and CASP10, which demonstrate evidence for linkage and association to ITEV.
详细描述
Blood Collection: For this study, the investigators need to obtain blood samples from members of families in which clubfoot has occurred; more specifically, blood samples from the affected child and both parents. DNA will be extracted from blood samples. The DNA will then be tested to look for genetic factors that cause clubfoot.
Study Questionnaires: As well as the blood samples, the investigators have a short questionnaire for the mother of the child with clubfoot to complete.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •One family member, usually child, must have clubfoot
排除标准
- 未提供
研究者
Christine Alvarez
Principle Investigator
University of British Columbia