Genetic studies in patients with nonsyndromic orofacial clefts

非综合征性口颌面裂患者的基因研究

• 批准号: 5423773
• 负责人: Privatdozentin Dr. Elisabeth Mangold
• 金额: --
• 依托单位: Institut für Humangenetik
• 依托单位国家: 德国
• 项目类别: Research Units
• 财政年份: 2004
• 资助国家: 德国
• 起止时间: 2003-12-31 至 2007-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/5423773?language=en
• 关键词: Genetic; studies; patients; nonsyndromic; orofacial

Orofacial clefts (cleft lip and cleft palate) belong to one of the most common congenital anomalies and may be observed in the context of various complex malformation syndromes. However, about 60% of the cases are classified as nonsyndromic orofacial clefts. Results of numerous epidemiological studies point towards a multifactorial etiology of isolated facial clefts, with several unknown interacting genetic mechanisms. Aim of the proposed study is the identification of genetic factors contributing to the development of orofacial clefts. We intend to collect DNA samples of 100 families each comprising at least two affected siblings and their parents, 300 trios (one affected child and its parents), and 500 cleft patients. Recruitment is planned as a cooperation of five German cleft centers. After completion of affected sib-pair recruitment, a systematic genome-wide linkage analysis in these families will be employed. In parallel to the sampling procedure genetic variants of candidate genes will be explored applying association strategies. Evaluation of the genetic background of orofacial clefting will contribute to a better understanding of the underlying pathophysiology, and will possibly facilitate specific molecular diagnostics, genetic counseling and preventive or therapeutic approaches.

口面裂（唇裂和腭裂）属于最常见的先天性异常之一，可以在各种复杂的畸形综合征中观察到。然而，约60%的病例被归类为非综合征性口面裂。许多流行病学研究的结果指向一个孤立的面裂的多因素病因学，与几个未知的相互作用的遗传机制。这项研究的目的是确定导致口面裂发展的遗传因素。我们打算收集100个家庭的DNA样本，每个家庭至少包括两个受影响的兄弟姐妹和他们的父母，300个三人组（一个受影响的孩子和他的父母），和500个唇腭裂患者。招聘计划作为五个德国唇腭裂中心的合作。在完成受影响的同胞对招募后，将在这些家庭中进行系统的全基因组连锁分析。在平行的抽样程序的候选基因的遗传变异将探讨应用关联策略。评估口面裂的遗传背景将有助于更好地了解潜在的病理生理学，并可能促进特定的分子诊断，遗传咨询和预防或治疗方法。